ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=)

gnomAD frequency: 0.00001  dbSNP: rs758375991
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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) RCV000319694 SCV000339484 uncertain significance not provided 2016-02-11 criteria provided, single submitter clinical testing
Invitae RCV001488379 SCV001692893 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2020-02-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000319694 SCV003824726 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000319694 SCV004032708 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing SYNE1: BP4, BP7

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