ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1366G>A (p.Glu456Lys)

dbSNP: rs539621646
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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 RCV001460840 SCV001664722 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036248 SCV005665180 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-05-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735860 SCV005346424 likely benign WDR19-related disorder 2024-06-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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