ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.8177+20A>T

gnomAD frequency: 0.48837  dbSNP: rs214943
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252766 SCV000315172 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000252766 SCV000519713 benign not specified 2016-01-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001513942 SCV001721651 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815297 SCV002062097 benign Arthrogryposis multiplex congenita 3, myogenic type 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815296 SCV002062098 benign Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815230 SCV002062099 benign Autosomal recessive ataxia, Beauce type 2021-07-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000252766 SCV001744564 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000252766 SCV001925646 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000252766 SCV001951109 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000252766 SCV001974454 benign not specified no assertion criteria provided clinical testing

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