ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.3453G>A (p.Thr1151=)

gnomAD frequency: 0.00003  dbSNP: rs1350997043
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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 RCV001403306 SCV001605172 likely benign Congenital myasthenic syndrome 8 2024-11-11 criteria provided, single submitter clinical testing

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