ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3951T>C (p.Cys1317=)

dbSNP: rs564992065
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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 RCV002540154 SCV001041276 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495431 SCV002799345 likely benign Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-04-15 criteria provided, single submitter clinical testing

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