ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.2T>C (p.Met1Thr)

dbSNP: rs1005792910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001585206 SCV001818557 pathogenic not provided 2021-04-05 criteria provided, single submitter clinical testing Initiation codon variant in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Neuberg Centre For Genomic Medicine, NCGM RCV004546668 SCV005042647 likely pathogenic Renal tubular dysgenesis of genetic origin criteria provided, single submitter clinical testing

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