ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.4272G>A (p.Ala1424=)

gnomAD frequency: 0.00061  dbSNP: rs201470321
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085356 SCV000653932 likely benign Congenital myasthenic syndrome 8 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000842499 SCV000984522 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000842499 SCV004126881 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing AGRN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003945305 SCV004762205 likely benign AGRN-related condition 2019-11-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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