ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.3533G>A (p.Arg1178Gln)

gnomAD frequency: 0.00264  dbSNP: rs148430436
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651399 SCV000773250 likely benign Congenital myasthenic syndrome 8 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001584502 SCV001819229 likely benign not provided 2020-06-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001584502 SCV004032536 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing AGRN: PP3, BS1

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