ClinVar Miner

Submissions for variant NM_003491.4(NAA10):c.*40A>G (rs1342269961)

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Total submissions: 2
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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 RCV000787314 SCV000864216 likely pathogenic Microphthalmia-ankyloblepharon-intellectual disability syndrome 2019-01-14 criteria provided, single submitter research
OMIM RCV001215739 SCV001387500 pathogenic Lenz microphthalmia syndrome 2020-07-10 no assertion criteria provided literature only

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