ClinVar Miner

Submissions for variant NM_003491.4(NAA10):c.*40A>G

dbSNP: rs1342269961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV001215739 SCV000864216 likely pathogenic Microphthalmia, syndromic 1 2019-01-14 criteria provided, single submitter research
GeneDx RCV001840731 SCV002099630 uncertain significance not provided 2022-02-15 criteria provided, single submitter clinical testing Reported in an individual with spina bifida and dysmorphic features in the published literature (Johnston et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 30842225)
OMIM RCV001215739 SCV001387500 pathogenic Microphthalmia, syndromic 1 2020-07-10 no assertion criteria provided literature only

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