ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.1057C>T (p.Gln353Ter)

dbSNP: rs587777299
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
OMIM RCV000114428 SCV000148370 pathogenic Congenital myasthenic syndrome 8 2012-07-01 no assertion criteria provided literature only
GeneReviews RCV000235030 SCV000292407 not provided Congenital myasthenic syndrome no assertion provided literature only

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