ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2454G>T (p.Ala818=)

dbSNP: rs141619541
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518818 SCV000612599 benign not specified 2017-07-24 criteria provided, single submitter clinical testing
Invitae RCV000865156 SCV001006082 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-12-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003419890 SCV004125279 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CACNA1S: BP4, BP7
Genome-Nilou Lab RCV003449469 SCV004177877 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449470 SCV004177878 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458446 SCV004177879 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449468 SCV004177882 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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