ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.2993C>T (p.Pro998Leu)

gnomAD frequency: 0.00036  dbSNP: rs200807722
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873148 SCV001015087 likely benign Congenital myasthenic syndrome 8 2025-01-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001817024 SCV002066176 benign not specified 2017-11-15 criteria provided, single submitter clinical testing

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