ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.5896C>T (p.Leu1966=)

gnomAD frequency: 0.00378  dbSNP: rs115828965
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556702 SCV000653981 benign Congenital myasthenic syndrome 8 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000600561 SCV000724541 likely benign not specified 2017-11-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV003311845 SCV004009709 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing AGRN: BS1

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