ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.2979C>T (p.Ile993=)

gnomAD frequency: 0.00452  dbSNP: rs75067113
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002149086 SCV002465508 benign not provided 2025-01-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494475 SCV002803093 likely benign Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 2021-07-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002149086 SCV005253012 benign not provided criteria provided, single submitter not provided

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