ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2607C>T (p.Tyr869=)

gnomAD frequency: 0.00004  dbSNP: rs371645967
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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 RCV001487560 SCV001692052 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501675 SCV002812592 likely benign Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-03-12 criteria provided, single submitter clinical testing

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