ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.984G>T (p.Leu328=)

gnomAD frequency: 0.00010  dbSNP: rs367685667
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243477 SCV000301861 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001436304 SCV001639142 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-02-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479956 SCV002800525 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-12-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454766 SCV004179194 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456037 SCV004179195 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458388 SCV004179196 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456036 SCV004179197 likely benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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