ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.2680+10G>A

gnomAD frequency: 0.00007  dbSNP: rs368839983
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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 RCV002917222 SCV003247323 likely benign Congenital myasthenic syndrome 8 2024-09-14 criteria provided, single submitter clinical testing

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