ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.3404A>G (p.Gln1135Arg)

gnomAD frequency: 0.00588  dbSNP: rs142416636
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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 RCV000116261 SCV000317037 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000543419 SCV000653911 benign Congenital myasthenic syndrome 8 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001618264 SCV001845940 benign not provided 2020-08-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31167812)
Genetic Services Laboratory, University of Chicago RCV000116261 SCV000150179 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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