ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.150G>A (p.Arg50=)

gnomAD frequency: 0.00001  dbSNP: rs1246931412
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752850 SCV001995760 uncertain significance not provided 2019-09-30 criteria provided, single submitter clinical testing In silico analysis, which includes splice 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002539152 SCV003330272 likely benign Anophthalmia-microphthalmia syndrome 2022-03-29 criteria provided, single submitter clinical testing

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