ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg)

gnomAD frequency: 0.00002  dbSNP: rs782141957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002488481 SCV002793275 uncertain significance Child syndrome; CK syndrome 2024-05-10 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001725240 SCV001959732 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001725240 SCV001970609 uncertain significance not provided no assertion criteria provided clinical testing

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