ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.*1679TG[7]

dbSNP: rs66908473
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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 RCV000398112 SCV000404806 benign Potassium-aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000309028 SCV000404807 benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358810 SCV000404808 benign Paramyotonia congenita of Von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001789767 SCV000404809 benign Familial hyperkalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323743 SCV000404810 benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001660669 SCV001874460 benign not provided 2021-05-14 criteria provided, single submitter clinical testing

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