ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.604-5_604-4del

gnomAD frequency: 0.00006  dbSNP: rs747438345
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001502315 SCV001707144 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2020-08-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540460 SCV004760320 likely benign WDR19-related disorder 2019-04-10 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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