ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.3195C>T (p.Cys1065=)

gnomAD frequency: 0.00001  dbSNP: rs375805945
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002540831 SCV001056791 likely benign Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2024-08-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541947 SCV004793952 likely benign WDR35-related disorder 2019-03-27 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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