ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3099C>T (p.Ala1033=)

gnomAD frequency: 0.00004  dbSNP: rs201752079
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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 RCV000946137 SCV001092238 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-06-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432949 SCV004162455 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing SYNE1: BP4, BP7

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