ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr) (rs111818381)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116271 SCV000317055 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514020 SCV000610743 likely benign not provided 2017-07-05 criteria provided, single submitter clinical testing
Invitae RCV000551508 SCV000653940 benign Myasthenic syndrome, congenital, 8 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000116271 SCV000714920 benign not specified 2018-02-07 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 RCV000116271 SCV000150189 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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