ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18213G>A (p.Lys6071=)

gnomAD frequency: 0.00007  dbSNP: rs942245024
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615766 SCV000723247 likely benign not specified 2017-09-26 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.
Eurofins Ntd Llc (ga) RCV000731704 SCV000859552 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing
Invitae RCV002065308 SCV002387003 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-15 criteria provided, single submitter clinical testing

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