ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=)

gnomAD frequency: 0.00006  dbSNP: rs149036408
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711146 SCV000841474 benign not provided 2018-08-03 criteria provided, single submitter clinical testing
Invitae RCV001515531 SCV001723619 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-11-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451565 SCV004181121 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451566 SCV004181122 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458489 SCV004181123 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451564 SCV004181124 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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