ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=)

gnomAD frequency: 0.00003  dbSNP: rs143118084
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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) RCV000725116 SCV000334210 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000725116 SCV000721203 likely benign not provided 2019-08-13 criteria provided, single submitter clinical testing
Invitae RCV001089199 SCV000769478 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-12-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000404318 SCV001474833 likely benign not specified 2021-02-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000725116 SCV001744694 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000725116 SCV001966763 likely benign not provided no assertion criteria provided clinical testing

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