ClinVar Miner

Submissions for variant NM_001206999.2(CIT):c.3271G>A (p.Val1091Ile)

gnomAD frequency: 0.00007  dbSNP: rs200184645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001541080 SCV001759035 uncertain significance not provided 2019-08-09 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV003146215 SCV003830674 uncertain significance Microcephaly 17, primary, autosomal recessive 2020-03-19 criteria provided, single submitter clinical testing

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