ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.7713-49G>A

gnomAD frequency: 0.47302  dbSNP: rs214944
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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 RCV000250048 SCV000315169 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000829831 SCV000971563 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 RCV001815229 SCV002062100 benign Arthrogryposis multiplex congenita 3, myogenic type 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815228 SCV002062101 benign Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815227 SCV002062102 benign Autosomal recessive ataxia, Beauce type 2021-07-15 criteria provided, single submitter clinical testing

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