ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.302C>A (p.Ser101Tyr)

dbSNP: rs1381726098
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075305 SCV001240923 uncertain significance Retinal dystrophy 2017-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005029683 SCV005662176 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-03-19 criteria provided, single submitter clinical testing

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