ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.462C>T (p.Ser154=)

gnomAD frequency: 0.00004  dbSNP: rs761939786
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713667 SCV000844294 likely benign not provided 2017-12-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000713667 SCV000862479 uncertain significance not provided 2018-07-19 criteria provided, single submitter clinical testing
Invitae RCV002067006 SCV002386568 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-03-02 criteria provided, single submitter clinical testing

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