ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=)

gnomAD frequency: 0.00015  dbSNP: rs185829704
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000710259 SCV000336058 uncertain significance not provided 2015-10-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000384028 SCV000461439 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269905 SCV000461440 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710259 SCV000615677 likely benign not provided 2018-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512737 SCV001720197 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-11-27 criteria provided, single submitter clinical testing

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