ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.513G>T (p.Thr171=)

dbSNP: rs754543019
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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 RCV001456692 SCV001660478 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-10-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501600 SCV002804957 likely benign Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-05-19 criteria provided, single submitter clinical testing

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