ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2364-4del

dbSNP: rs750106753
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519487 SCV001728364 benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495826 SCV002796008 likely benign Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-09-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003120618 SCV003800306 likely benign not provided 2022-09-16 criteria provided, single submitter clinical testing

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