ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp)

dbSNP: rs370800852
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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) RCV000333138 SCV000333639 uncertain significance not provided 2015-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087676 SCV000769391 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-12-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001087676 SCV003826525 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-02-27 criteria provided, single submitter clinical testing

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