ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3716+1G>A

dbSNP: rs1191056931
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005034059 SCV005665269 likely pathogenic Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-04-18 criteria provided, single submitter clinical testing
Dan Cohn Lab, University Of California Los Angeles RCV000515837 SCV000612051 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515837 SCV001479404 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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