ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3505-39A>C

gnomAD frequency: 0.51916  dbSNP: rs502268
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000245277 SCV000315162 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000829769 SCV000971501 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001815293 SCV002062107 benign Arthrogryposis multiplex congenita 3, myogenic type 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815292 SCV002062108 benign Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815291 SCV002062109 benign Autosomal recessive ataxia, Beauce type 2021-07-15 criteria provided, single submitter clinical testing

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