ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16896+9dup

dbSNP: rs761957607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731597 SCV000859437 uncertain significance not provided 2018-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535222 SCV003263602 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-03-23 criteria provided, single submitter clinical testing

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