ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.579G>A (p.Ala193=)

gnomAD frequency: 0.00331  dbSNP: rs201301445
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536149 SCV000653979 benign Congenital myasthenic syndrome 8 2024-01-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002275070 SCV002562891 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing AGRN: BP4, BP7

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