ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4204C>T (p.Leu1402Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003990710 SCV004807608 likely pathogenic Hyperkalemic periodic paralysis 2024-03-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005015110 SCV005651718 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 2024-06-01 criteria provided, single submitter clinical testing

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