ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9651+47C>T

gnomAD frequency: 0.45478  dbSNP: rs1873176
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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 RCV000243399 SCV000315179 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000829289 SCV000971005 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 RCV001815299 SCV002062366 benign Arthrogryposis multiplex congenita 3, myogenic type 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815232 SCV002062367 benign Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815231 SCV002062368 benign Autosomal recessive ataxia, Beauce type 2021-07-15 criteria provided, single submitter clinical testing

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