ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18441T>C (p.Asn6147=)

gnomAD frequency: 0.00002  dbSNP: rs558367406
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002065446 SCV002324852 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-04-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424432 SCV004160535 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing SYNE1: BP4, BP7

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