ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1948+10C>G

gnomAD frequency: 0.00059  dbSNP: rs201173419
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245857 SCV000301807 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263528 SCV000353072 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.
Invitae RCV000532827 SCV000653654 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000245857 SCV001474978 benign not specified 2020-02-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479955 SCV002799975 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-10-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445732 SCV004173259 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445733 SCV004173260 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445734 SCV004173261 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000263528 SCV004173262 likely benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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