ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3])

gnomAD frequency: 0.00039  dbSNP: rs398123469
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079125 SCV000110994 uncertain significance not provided 2013-03-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194650 SCV000248761 uncertain significance not specified 2014-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080167 SCV000659798 benign RYR1-related disorder 2025-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266699 SCV001444876 benign Inborn genetic diseases 2019-06-23 criteria provided, single submitter clinical testing
GeneDx RCV000079125 SCV001831769 benign not provided 2018-04-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30611313, 28326467, 27663056, 26972305, 23476141, 23628358, 23394784, 19807743, 19191329)
CeGaT Center for Human Genetics Tuebingen RCV000079125 SCV004042051 benign not provided 2024-10-01 criteria provided, single submitter clinical testing RYR1: BS1, BS2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000194650 SCV004848599 benign not specified 2021-11-05 criteria provided, single submitter clinical testing The p.Ala4290_Ala4291insThrAlaAla variant in RYR1 is classified as benign because it has been identified in 2.53% (205/8116) of African/African-American chromosomes, including 3 homozygotes, by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA
PreventionGenetics, part of Exact Sciences RCV001080167 SCV000852319 likely benign RYR1-related disorder 2021-11-04 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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