ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.1384+28G>A

gnomAD frequency: 0.77416  dbSNP: rs2710876
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000251375 SCV000317007 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000837516 SCV000979371 benign not provided 2018-06-16 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.
Genome-Nilou Lab RCV001544342 SCV001763364 benign Congenital myasthenic syndrome 8 2021-07-14 criteria provided, single submitter clinical testing

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