ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2361-10G>A

gnomAD frequency: 0.00008  dbSNP: rs533238983
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651252 SCV000773103 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-05-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499119 SCV002813048 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-03-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446288 SCV004173219 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446289 SCV004173221 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446290 SCV004173222 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446287 SCV004173223 likely benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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