ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3669+10T>C

gnomAD frequency: 0.00056  dbSNP: rs187598275
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614246 SCV000728313 likely benign not specified 2018-03-08 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.
Invitae RCV000647686 SCV000769484 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000614246 SCV001476212 benign not specified 2019-12-27 criteria provided, single submitter clinical testing

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