ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1791T>C (p.Ile597=)

dbSNP: rs2109358310
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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 RCV002081628 SCV002423648 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2021-10-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500108 SCV002804755 likely benign Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-11-10 criteria provided, single submitter clinical testing

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