ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2345C>T (p.Thr782Ile)

dbSNP: rs2105827881
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002276082 SCV002563611 likely pathogenic not provided 2021-04-01 criteria provided, single submitter clinical testing

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