ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6645C>T (p.Asn2215=)

dbSNP: rs1193871694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002209728 SCV002363647 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-02-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003138071 SCV003825241 uncertain significance not provided 2020-08-27 criteria provided, single submitter clinical testing

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