ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=)

gnomAD frequency: 0.00007  dbSNP: rs751405561
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722656 SCV000718905 likely benign not provided 2021-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000651239 SCV000773090 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-08-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451395 SCV004180929 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456101 SCV004180931 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458470 SCV004180932 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456100 SCV004180933 likely benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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