ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.1317G>T (p.Leu439=)

gnomAD frequency: 0.00020  dbSNP: rs140529617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002138856 SCV002464713 likely benign not provided 2024-02-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500316 SCV002811982 likely benign Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 2021-10-02 criteria provided, single submitter clinical testing

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