ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.393A>C (p.Leu131=)

dbSNP: rs139291592
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000735176 SCV000863379 uncertain significance not provided 2018-09-14 criteria provided, single submitter clinical testing
Invitae RCV001430481 SCV001633221 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-05-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000735176 SCV003825221 uncertain significance not provided 2019-05-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000735176 SCV004162472 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing SYNE1: BP4, BP7

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