ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2193C>T (p.Asn731=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002612493 SCV003514192 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538834 SCV004719207 likely benign WDR19-related disorder 2019-08-06 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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