ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.1385-42G>C

gnomAD frequency: 0.00005  dbSNP: rs200373411
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Neurology, Xiangya Hospital Central South University RCV001698933 SCV001916960 pathogenic Congenital myasthenic syndrome 8 2021-09-22 no assertion criteria provided clinical testing

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