ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg)

gnomAD frequency: 0.00060  dbSNP: rs146244669
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516561 SCV000615671 uncertain significance not specified 2016-12-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726600 SCV000701739 uncertain significance not provided 2017-09-26 criteria provided, single submitter clinical testing
Invitae RCV001078470 SCV000818556 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-09-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000726600 SCV003825295 uncertain significance not provided 2020-09-10 criteria provided, single submitter clinical testing

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