ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys)

dbSNP: rs35708442
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV002051686 SCV000296865 benign Malignant hyperthermia of anesthesia 2015-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000181040 SCV000301812 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000402981 SCV000353063 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001086534 SCV000653660 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000534954 SCV001143491 benign not provided 2019-08-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454477 SCV004178918 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454478 SCV004178919 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458350 SCV004178920 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000402981 SCV004178921 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003454477 SCV004826015 benign Malignant hyperthermia, susceptibility to, 5 2024-02-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000534954 SCV005288087 benign not provided criteria provided, single submitter not provided

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