ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.25983C>T (p.Asp8661=)

gnomAD frequency: 0.00001  dbSNP: rs781435849
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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) RCV000347349 SCV000345278 uncertain significance not provided 2016-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001421535 SCV001624060 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-10-24 criteria provided, single submitter clinical testing

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