ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) (rs9479297)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118439 SCV000315091 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118439 SCV000332978 benign not specified 2015-07-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267635 SCV000461231 benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317782 SCV000461232 benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000118439 SCV000519633 benign not specified 2016-01-05 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 RCV000993120 SCV001145866 benign not provided 2018-11-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118439 SCV000152845 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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