ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.4879+17T>A

gnomAD frequency: 0.00170  dbSNP: rs535286672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245933 SCV000317060 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV002058484 SCV002435975 likely benign Congenital myasthenic syndrome 8 2024-01-29 criteria provided, single submitter clinical testing

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