ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2746-14C>T

gnomAD frequency: 0.03828  dbSNP: rs113792034
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243661 SCV000301824 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353533 SCV000353028 benign Hypokalemic periodic paralysis, type 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000243661 SCV000519216 benign not specified 2016-02-23 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 RCV002057284 SCV002377748 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445757 SCV004173183 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445758 SCV004173184 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445759 SCV004173185 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000353533 SCV004173187 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003445757 SCV004360362 benign Malignant hyperthermia, susceptibility to, 5 2019-03-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003445757 SCV004822697 benign Malignant hyperthermia, susceptibility to, 5 2024-02-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713433 SCV005288077 benign not provided criteria provided, single submitter not provided

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