ClinVar Miner

Submissions for variant NM_006439.5(MAB21L2):c.152G>A (p.Arg51His)

dbSNP: rs587777511
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000128563 SCV000291967 likely pathogenic Colobomatous microphthalmia-rhizomelic dysplasia syndrome 2015-06-05 criteria provided, single submitter research
OMIM RCV000128563 SCV000172211 pathogenic Colobomatous microphthalmia-rhizomelic dysplasia syndrome 2014-06-05 no assertion criteria provided literature only

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