ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.2067G>A (p.Gln689=)

gnomAD frequency: 0.00288  dbSNP: rs139886237
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081558 SCV000653883 benign Congenital myasthenic syndrome 8 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000555033 SCV001142974 benign not provided 2019-06-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000555033 SCV001961054 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing AGRN: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000555033 SCV005263832 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003891994 SCV000317017 benign AGRN-related disorder 2019-08-08 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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