ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.42C>T (p.Gly14=)

gnomAD frequency: 0.00001  dbSNP: rs531575276
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002123266 SCV002447227 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500194 SCV002805987 likely benign Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-10-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531459 SCV004751706 likely benign WDR19-related disorder 2019-04-09 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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