ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.2013C>T (p.Ser671=)

gnomAD frequency: 0.00093  dbSNP: rs141603403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592192 SCV000707874 uncertain significance not provided 2017-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082099 SCV001018547 benign Congenital myasthenic syndrome 8 2025-01-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000592192 SCV004009706 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing AGRN: BP4, BP7

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