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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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
PreventionGenetics, part of Exact Sciences RCV004543583 SCV004777000 likely benign WDR19-related disorder 2022-09-03 criteria provided, single submitter 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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