ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2468G>A (p.Arg823Gln)

gnomAD frequency: 0.00006  dbSNP: rs553619980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244432 SCV001417652 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-11-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003487282 SCV003828858 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing

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