ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.2406C>T (p.Gly802=)

gnomAD frequency: 0.01095  dbSNP: rs75774767
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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 RCV000116257 SCV000317022 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000531365 SCV000653887 benign Congenital myasthenic syndrome 8 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001560474 SCV001782892 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116257 SCV000150175 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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