ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.32C>T (p.Pro11Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795854 SCV005418729 uncertain significance Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 criteria provided, single submitter clinical testing PM2_Supporting+PM6_Supporting

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