ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1400G>A (p.Arg467Gln)

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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 RCV002953227 SCV003272164 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-08-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005034509 SCV005665183 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-06-21 criteria provided, single submitter clinical testing

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