ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.5353G>A (p.Asp1785Asn)

gnomAD frequency: 0.00636  dbSNP: rs144245019
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116276 SCV000150194 uncertain significance not provided 2013-08-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000244639 SCV000317071 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000244639 SCV000528652 benign not specified 2018-02-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000540887 SCV000653968 benign Congenital myasthenic syndrome 8 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000116276 SCV004184970 benign not provided 2024-03-01 criteria provided, single submitter clinical testing AGRN: BP4, BS1, BS2

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