ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.916T>C (p.Leu306=)

gnomAD frequency: 0.00002  dbSNP: rs757561646
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002077225 SCV002450311 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-10-23 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001795526 SCV002034620 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796929 SCV002038418 likely benign not provided no assertion criteria provided clinical testing

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