ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.5134+8C>T

gnomAD frequency: 0.00238  dbSNP: rs114243233
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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 RCV000254429 SCV000301849 benign not specified 2016-03-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000254429 SCV000612611 benign not specified 2017-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000532784 SCV000653721 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2025-01-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445797 SCV004172979 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445798 SCV004172980 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445799 SCV004172981 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445796 SCV004172982 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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