ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.3503+1G>C

dbSNP: rs779188587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677667 SCV000803807 likely pathogenic Renal tubular dysgenesis 2015-06-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005027832 SCV005654014 likely pathogenic Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 2024-05-19 criteria provided, single submitter clinical testing

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