ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) (rs34891041)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000118461 SCV000519939 benign not specified 2016-01-28 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.
Genetic Services Laboratory, University of Chicago RCV000118461 SCV000152867 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.
Illumina Clinical Services Laboratory,Illumina RCV000394551 SCV000460973 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298409 SCV000460974 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000546210 SCV000649120 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-08-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118461 SCV000315133 benign not specified criteria provided, single submitter clinical testing

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