ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.5254-5C>T

gnomAD frequency: 0.00248  dbSNP: rs34708466
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081945 SCV000653962 benign Congenital myasthenic syndrome 8 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000533690 SCV000730691 likely benign not provided 2020-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000533690 SCV001147091 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing AGRN: BP4

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