Variants of uncertain significance in prenatal microarrays: a retrospective cohort study.

ABSTRACT:

Objective

To categorise the variants of uncertain significance found with prenatal chromosomal microarray and determine the proportion of such variants that are associated with a well-known phenotype in order to establish how often they remain truly of uncertain significance.

Design

Retrospective cohort study.

Setting

The University of California, San Francisco.

Population

All patients with a variant of uncertain significance on prenatal microarray between 2014 and 2018.

Methods

Each variant was classified as a copy number variant that (a) contains Online Mendelian Inheritance in Man (OMIM)-annotated disease-causing genes ('OMIM morbid genes'); (b) confers autosomal recessive carrier status; (c) is associated with incomplete penetrance; (d) is >1 Mb in s

SUBMITTER: Mardy AH 

PROVIDER: S-EPMC7856034 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature