ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5235G>A (p.Thr1745=)

gnomAD frequency: 0.00029  dbSNP: rs149471411
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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) RCV000595294 SCV000706358 uncertain significance not provided 2017-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089039 SCV001010340 likely benign RYR1-related disorder 2024-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000595294 SCV004011052 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing RYR1: BP4, BP7
All of Us Research Program, National Institutes of Health RCV004002463 SCV004823366 benign Malignant hyperthermia, susceptibility to, 1 2024-02-05 criteria provided, single submitter clinical testing

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