ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.4352C>T (p.Pro1451Leu)

gnomAD frequency: 0.00426  dbSNP: rs144620006
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243502 SCV000317051 likely benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000243502 SCV000593072 likely benign not specified 2016-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079600 SCV000653936 likely benign Congenital myasthenic syndrome 8 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000533961 SCV000728476 likely benign not provided 2021-09-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19631309)
Athena Diagnostics RCV000533961 SCV001142975 benign not provided 2019-03-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000533961 SCV002062375 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing AGRN: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000533961 SCV005258258 likely benign not provided criteria provided, single submitter not provided

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