ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.526C>T (p.Leu176=)

gnomAD frequency: 0.00005  dbSNP: rs544749044
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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 RCV000195231 SCV000246341 uncertain significance not specified 2014-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000195231 SCV000317068 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054249 SCV002461818 benign Congenital myasthenic syndrome 8 2023-06-30 criteria provided, single submitter clinical testing

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