ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=)

gnomAD frequency: 0.01658  dbSNP: rs61734621
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246531 SCV000301859 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351425 SCV000353148 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 RCV000246531 SCV000528302 benign not specified 2016-08-31 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 RCV001085454 SCV000653737 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711150 SCV000841478 benign not provided 2018-08-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494690 SCV002804149 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-04-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000711150 SCV003800483 benign not provided 2023-10-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454764 SCV004179235 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454765 SCV004179237 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458386 SCV004179238 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000351425 SCV004179239 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003454764 SCV004360403 benign Malignant hyperthermia, susceptibility to, 5 2022-08-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003454764 SCV004835025 benign Malignant hyperthermia, susceptibility to, 5 2024-02-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711150 SCV005288111 benign not provided criteria provided, single submitter not provided

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