ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.4161T>C (p.Thr1387=)

gnomAD frequency: 0.49370  dbSNP: rs9442391
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116269 SCV000150187 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000116269 SCV000317048 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000116269 SCV000519276 benign not specified 2016-01-19 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.
Invitae RCV001520295 SCV001729358 benign Congenital myasthenic syndrome 8 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520295 SCV001763373 benign Congenital myasthenic syndrome 8 2021-07-14 criteria provided, single submitter clinical testing

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