ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3897G>C (p.Ala1299=)

gnomAD frequency: 0.00003  dbSNP: rs753027544
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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) RCV000730918 SCV000858685 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001410426 SCV001612473 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-12-26 criteria provided, single submitter clinical testing

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