ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.8616+7G>A (rs200023171)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000245008 SCV000111048 likely benign not specified 2015-07-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000245008 SCV000305053 benign not specified 2016-05-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360991 SCV000412588 likely benign Central core myopathy 2019-06-17 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000390846 SCV000412589 likely benign Minicore myopathy with external ophthalmoplegia 2019-06-17 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000307508 SCV000412590 likely benign Malignant hyperthermia, susceptibility to, 1 2019-06-17 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000364550 SCV000412591 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000245008 SCV000614917 likely benign not specified 2017-02-03 criteria provided, single submitter clinical testing
Invitae RCV000554642 SCV000660070 benign RYR1-Related Disorders 2020-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000245008 SCV000715412 likely benign not specified 2017-05-10 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.

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