ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.5358T>C (p.Gly1786=)

gnomAD frequency: 0.08292  dbSNP: rs17160781
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000116277 SCV000317072 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000116277 SCV000526743 benign not specified 2016-09-20 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 RCV001517836 SCV001726417 benign Congenital myasthenic syndrome 8 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116277 SCV000150195 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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