ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.9926A>T (p.His3309Leu)

dbSNP: rs8010699
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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) RCV000393944 SCV000333314 uncertain significance not provided 2015-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000532586 SCV000648996 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-11-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000532586 SCV003818323 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-10-13 criteria provided, single submitter clinical testing

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