ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.*1677_*1678insAT

gnomAD frequency: 0.01652  dbSNP: rs397797581
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000359867 SCV000404811 likely benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000260567 SCV000404812 likely benign Potassium-aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000315746 SCV000404813 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000375133 SCV000404814 likely benign Paramyotonia congenita of Von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001789768 SCV000404815 likely benign Hyperkalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001731597 SCV001982704 benign not provided 2021-09-18 criteria provided, single submitter clinical testing

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