ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2364-3del

gnomAD frequency: 0.00079  dbSNP: rs757992911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176230 SCV000227847 uncertain significance not provided 2014-06-06 criteria provided, single submitter clinical testing
Invitae RCV001078879 SCV001097255 benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539633 SCV004770881 likely benign WDR19-related disorder 2022-10-07 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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