ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3359-8T>G

gnomAD frequency: 0.00010  dbSNP: rs375839756
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000887498 SCV001031055 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-09 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701349 SCV001919408 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701349 SCV001974201 likely benign not provided no assertion criteria provided clinical testing

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