ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3670-14del

dbSNP: rs111322292
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000342396 SCV000461513 uncertain significance Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391700 SCV000461514 uncertain significance Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517590 SCV001726118 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001702629 SCV001948950 benign not provided 2019-08-06 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700087 SCV001919515 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702629 SCV001927802 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700087 SCV001966415 benign not specified no assertion criteria provided clinical testing

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