ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6720T>C (p.Phe2240=)

gnomAD frequency: 0.00001  dbSNP: rs758841233
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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) RCV000734353 SCV000862486 uncertain significance not provided 2018-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536517 SCV003454720 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2025-01-06 criteria provided, single submitter clinical testing

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