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UnknownAssessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
Not available
S-EPMC11560577 | biostudies-literature
UnknownCalibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Not available
S-EPMC9748256 | biostudies-literature
UnknownClassification of BRCA1 missense variants of unknown clinical significance.
Not available
S-EPMC1735988 | biostudies-literature
UnknownA unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.
Not available
S-EPMC4157619 | biostudies-literature
UnknownLarge-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Not available
S-EPMC11568752 | biostudies-literature
UnknownGene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Not available
S-EPMC10922469 | biostudies-literature
UnknownApplication of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Not available
S-EPMC4294709 | biostudies-literature
UnknownNo evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
Not available
S-EPMC4938802 | biostudies-literature
UnknownLarge scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Not available
S-EPMC6772163 | biostudies-literature
UnknownPALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
Not available
S-EPMC5200636 | biostudies-literature
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