ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.7647C>T (p.His2549=)

gnomAD frequency: 0.00071  dbSNP: rs113163375
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000713689 SCV000231292 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000179096 SCV000597339 likely benign not specified 2016-10-10 criteria provided, single submitter clinical testing
Invitae RCV001080529 SCV000649208 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-12-26 criteria provided, single submitter clinical testing
GeneDx RCV000179096 SCV000727157 likely benign not specified 2018-02-01 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.
Athena Diagnostics Inc RCV000713689 SCV000844316 benign not provided 2018-06-19 criteria provided, single submitter clinical testing

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