ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.109G>A (p.Ala37Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005017201 SCV005650948 uncertain significance Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal 2024-02-14 criteria provided, single submitter clinical testing
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences RCV002306247 SCV002600044 uncertain significance Hyperkalemic periodic paralysis 2022-04-12 no assertion criteria provided research

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