ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.5814C>T (p.Pro1938=)

gnomAD frequency: 0.00020  dbSNP: rs369308183
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
Invitae RCV000548862 SCV000653980 benign Congenital myasthenic syndrome 8 2023-12-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409818 SCV004126890 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing AGRN: BP4, BP7

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