ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=)

gnomAD frequency: 0.00170  dbSNP: rs138423302
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248292 SCV000301845 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272318 SCV000352946 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301685 SCV000352947 likely benign Malignant hyperthermia of anesthesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001085702 SCV000653716 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000538638 SCV001143497 benign not provided 2018-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000538638 SCV001770229 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454750 SCV004181081 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456030 SCV004181082 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458378 SCV004181083 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456029 SCV004181084 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003454750 SCV004822731 benign Malignant hyperthermia, susceptibility to, 5 2024-02-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000538638 SCV005041944 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing CACNA1S: BP4, BP7

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