ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18153C>T (p.Ala6051=)

dbSNP: rs201090220
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000270524 SCV000338819 likely benign not specified 2016-01-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000270524 SCV000844239 benign not specified 2024-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001510759 SCV001717875 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-03-07 criteria provided, single submitter clinical testing

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