ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.1682G>A (p.Arg561Gln) (rs80097077)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224871 SCV000281621 likely benign not provided 2016-05-03 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000116694 SCV000519355 benign not specified 2016-06-16 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 RCV000116694 SCV000150663 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.
Invitae RCV000528089 SCV000634117 benign Familial infantile myasthenia 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116694 SCV000313622 benign not specified criteria provided, single submitter clinical testing

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