ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly) (rs141315921)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174437 SCV000225739 benign not specified 2015-11-11 criteria provided, single submitter clinical testing
GeneDx RCV001697204 SCV000534654 likely benign not provided 2021-06-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000174437 SCV000615632 benign not specified 2019-12-06 criteria provided, single submitter clinical testing
Invitae RCV000871390 SCV001013040 likely benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2020-11-21 criteria provided, single submitter clinical testing

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