ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.1557C>T (p.Ala519=)

gnomAD frequency: 0.00012  dbSNP: rs146185843
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651425 SCV000773276 likely benign Congenital myasthenic syndrome 8 2025-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000651425 SCV003820552 uncertain significance Congenital myasthenic syndrome 8 2021-06-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411543 SCV004126870 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing AGRN: BP4, BP7

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