ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr)

dbSNP: rs148028681
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179681 SCV000231969 likely benign not specified 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000647710 SCV000724014 likely benign not provided 2018-05-03 criteria provided, single submitter clinical testing
Invitae RCV001078572 SCV000769508 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000647710 SCV001154941 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000647710 SCV001475590 likely benign not provided 2020-05-11 criteria provided, single submitter clinical testing

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