ClinVar Miner

Submissions for variant NM_153212.3(GJB4):c.35G>A (p.Gly12Asp)

dbSNP: rs80358211
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005310 SCV000025488 pathogenic Erythrokeratodermia variabilis et progressiva 2 2003-04-01 no assertion criteria provided literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723540 SCV001953464 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723540 SCV001972136 pathogenic not provided no assertion criteria provided clinical testing

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