ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2628G>T (p.Val876=)

gnomAD frequency: 0.00008  dbSNP: rs200898535
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651254 SCV000773105 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311632 SCV001500411 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing CACNA1S: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV002507123 SCV002807751 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451572 SCV004177846 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451573 SCV004177848 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458493 SCV004177849 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456119 SCV004177850 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003451572 SCV004823500 benign Malignant hyperthermia, susceptibility to, 5 2024-02-05 criteria provided, single submitter clinical testing

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