ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.177G>A (p.Gln59=)

gnomAD frequency: 0.00034  dbSNP: rs147912715
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000344593 SCV000404636 likely benign Renal tubular dysgenesis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV002056614 SCV002410548 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504096 SCV002805783 likely benign Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 2021-12-03 criteria provided, single submitter clinical testing

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