ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.10935C>T (p.His3645=)

gnomAD frequency: 0.00006  dbSNP: rs201704617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002154984 SCV002334486 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2025-01-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426299 SCV004160571 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing SYNE1: BP4, BP7

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