ClinVar Miner

Submissions for variant NM_001734.5(C1S):c.356G>A (p.Arg119His)

gnomAD frequency: 0.12113  dbSNP: rs12146727
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522186 SCV001731677 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001522186 SCV001893305 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522186 SCV005237436 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579379 SCV001807013 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001522186 SCV001953433 likely benign not provided no assertion criteria provided clinical testing

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