ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2415T>C (p.Pro805=)

gnomAD frequency: 0.00319  dbSNP: rs141881325
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248805 SCV000304882 benign not specified 2018-03-12 criteria provided, single submitter clinical testing
GeneDx RCV001722293 SCV000527487 likely benign not provided 2021-03-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000547071 SCV000659889 benign RYR1-related disorder 2025-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000248805 SCV000707306 likely benign not specified 2017-03-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001127723 SCV001287066 likely benign Malignant hyperthermia, susceptibility to, 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV001127724 SCV001287067 likely benign Congenital multicore myopathy with external ophthalmoplegia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV001722293 SCV004011050 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing RYR1: BP4, BP7, BS1
All of Us Research Program, National Institutes of Health RCV001127723 SCV004820771 benign Malignant hyperthermia, susceptibility to, 1 2024-02-05 criteria provided, single submitter clinical testing

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