ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19471-18C>T

gnomAD frequency: 0.64435  dbSNP: rs6557210
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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 RCV000253179 SCV000315121 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000253179 SCV000519639 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 RCV001509992 SCV001716914 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815290 SCV002062310 benign Arthrogryposis multiplex congenita 3, myogenic type 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815289 SCV002062311 benign Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815288 SCV002062312 benign Autosomal recessive ataxia, Beauce type 2021-07-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000253179 SCV001742594 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000253179 SCV001917270 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000253179 SCV001952080 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000253179 SCV001972075 benign not specified no assertion criteria provided clinical testing

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