ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3301G>A (p.Gly1101Arg)

dbSNP: rs864621973
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília RCV000205306 SCV000223912 pathogenic Spondyloepiphyseal dysplasia congenita 2015-04-01 criteria provided, single submitter research

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