ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1995GGTGGA[3] (p.666VE[3])

dbSNP: rs763064503
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV001699678 SCV002503057 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699678 SCV001924032 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699678 SCV001959131 uncertain significance not provided no assertion criteria provided clinical testing

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