ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.5620G>C (p.Val1874Leu)

dbSNP: rs781602116
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226923 SCV002505824 likely pathogenic Cognitive impairment with or without cerebellar ataxia 2021-08-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV002226923 SCV002765067 uncertain significance Cognitive impairment with or without cerebellar ataxia 2022-11-24 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM1, PS4_SUP, PM2_SUP, PP3

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