ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13596G>T (p.Val4532=)

gnomAD frequency: 0.00001  dbSNP: rs886043332
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000306497 SCV000339524 uncertain significance not provided 2016-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005222869 SCV005867011 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-04-03 criteria provided, single submitter clinical testing

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