ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3475T>C (p.Ser1159Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003224970 SCV003921022 likely pathogenic Potassium-aggravated myotonia 2023-03-27 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2_MOD, PM1, PM2_SUP, PP3, PP4

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