ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1797T>G (p.Ala599=)

gnomAD frequency: 0.00011  dbSNP: rs373430338
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000952345 SCV001098841 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479098 SCV002794601 likely benign Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-09-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711453 SCV005257289 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004543583 SCV004777000 likely benign WDR19-related disorder 2022-09-03 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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