ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.6057C>T (p.Asp2019=)

gnomAD frequency: 0.58285  dbSNP: rs4275402
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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 RCV000116281 SCV000150199 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000116281 SCV000317080 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000116281 SCV000519176 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 RCV001509756 SCV001716617 benign Congenital myasthenic syndrome 8 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001509756 SCV001763460 benign Congenital myasthenic syndrome 8 2021-07-14 criteria provided, single submitter clinical testing

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