ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2464A>G (p.Ile822Val)

gnomAD frequency: 0.00010  dbSNP: rs138364911
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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 RCV001313901 SCV001504412 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476453 SCV002781713 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-05-21 criteria provided, single submitter clinical testing

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