ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2454C>T (p.Ala818=)

gnomAD frequency: 0.00008  dbSNP: rs748535483
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001481407 SCV001685750 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-11-24 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528707 SCV001740909 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699553 SCV001918495 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528707 SCV001967924 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528707 SCV002034295 likely benign not provided no assertion criteria provided clinical testing

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