ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.17203-6del

dbSNP: rs55633181
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203031 SCV000258271 benign not specified 2015-02-13 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000203031 SCV000862971 benign not specified 2018-08-14 criteria provided, single submitter clinical testing
Invitae RCV000870485 SCV001011983 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-10-30 criteria provided, single submitter clinical testing
GeneDx RCV001573564 SCV001835109 benign not provided 2019-08-15 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573564 SCV001799622 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573564 SCV001927597 likely benign not provided no assertion criteria provided clinical testing

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