ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.2254+20G>A

gnomAD frequency: 0.00001  dbSNP: rs749805082
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002127662 SCV002414353 likely benign Congenital myasthenic syndrome 8 2024-03-26 criteria provided, single submitter clinical testing

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