ClinVar Miner

Submissions for variant NM_006744.4(RBP4):c.569-1G>A

dbSNP: rs2058270689
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, University Hospital of Toulouse RCV001270675 SCV001364582 likely pathogenic Microphthalmia, isolated, with coloboma 10 2020-05-15 criteria provided, single submitter clinical testing This null variant affecting RBP4 gene c.569-1G>A, p.? was never reported in the literature and is absent from GnomAD.

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