ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1506C>T (p.Phe502=)

gnomAD frequency: 0.00053  dbSNP: rs141808465
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000243250 SCV000301798 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000651236 SCV000773087 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454725 SCV004179091 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454726 SCV004179093 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458360 SCV004179094 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456014 SCV004179095 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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