ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.269+19C>T

gnomAD frequency: 0.00221  dbSNP: rs140267028
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422115 SCV000523070 likely benign not specified 2017-05-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002065035 SCV002389519 benign not provided 2024-01-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244893 SCV002514894 benign Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551452 SCV004755470 likely benign WDR62-related disorder 2022-09-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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