ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser)

gnomAD frequency: 0.00005  dbSNP: rs551509462
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176851 SCV000228606 uncertain significance not provided 2014-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087122 SCV000777579 likely benign RYR1-related disorder 2024-08-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282000 SCV002570641 likely benign not specified 2022-07-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000176851 SCV003815024 uncertain significance not provided 2023-11-28 criteria provided, single submitter clinical testing

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