ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.956T>C (p.Ile319Thr)

dbSNP: rs2147471929
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Academic Medical Center RCV001699650 SCV001925542 pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699650 SCV001926281 likely pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699650 SCV001955881 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699650 SCV001969227 pathogenic not provided no assertion criteria provided clinical testing

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