ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.1570C>T (p.Arg524Trp)

gnomAD frequency: 0.00119  dbSNP: rs144164397
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516394 SCV000612296 uncertain significance not specified 2016-10-12 criteria provided, single submitter clinical testing
Invitae RCV000875965 SCV001018463 likely benign Congenital myasthenic syndrome 8 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003979922 SCV004786857 likely benign AGRN-related condition 2020-07-20 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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