ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.3570C>T (p.Arg1190=)

gnomAD frequency: 0.01197  dbSNP: rs75361935
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116265 SCV000317042 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000557303 SCV000653915 benign Congenital myasthenic syndrome 8 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001588925 SCV001826251 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001588925 SCV005259359 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116265 SCV000150183 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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