ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6138A>G (p.Leu2046=)

dbSNP: rs551228795
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000826954 SCV000968556 likely benign not provided 2018-05-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085499 SCV001011728 benign RYR1-related disorder 2024-12-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000826954 SCV004141598 uncertain significance not provided 2025-02-01 criteria provided, single submitter clinical testing RYR1: PM2:Supporting, BP4
PreventionGenetics, part of Exact Sciences RCV001085499 SCV005353487 likely benign RYR1-related disorder 2024-05-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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