ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=)

gnomAD frequency: 0.00171  dbSNP: rs73619386
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000300402 SCV000335986 likely benign not specified 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000713624 SCV000527294 likely benign not provided 2019-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078502 SCV000649100 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-11-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713624 SCV000844250 benign not provided 2017-09-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713624 SCV004160522 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing SYNE1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000713624 SCV005227876 likely benign not provided criteria provided, single submitter not provided

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