ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.3465T>C (p.Ala1155=)

gnomAD frequency: 0.00657  dbSNP: rs146358566
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116262 SCV000317038 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000116262 SCV000612299 benign not specified 2021-03-22 criteria provided, single submitter clinical testing
Invitae RCV000536981 SCV000653913 benign Congenital myasthenic syndrome 8 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001704018 SCV000714925 benign not provided 2019-04-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704018 SCV004126878 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing AGRN: BP4, BP7, BS2
Genetic Services Laboratory, University of Chicago RCV000116262 SCV000150180 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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