ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2613G>T (p.Leu871=)

dbSNP: rs770064983
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244344 SCV000301821 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001394380 SCV001596064 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2021-10-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456023 SCV004177851 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456024 SCV004177852 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458370 SCV004177853 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454738 SCV004177854 likely benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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