ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.3732C>T (p.His1244=)

gnomAD frequency: 0.00017  dbSNP: rs536657086
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195120 SCV000246338 uncertain significance not specified 2014-08-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000195120 SCV000317044 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000872823 SCV001014700 likely benign Congenital myasthenic syndrome 8 2024-01-12 criteria provided, single submitter clinical testing

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