ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3943T>G (p.Cys1315Gly)

dbSNP: rs527236144
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratório de Genética Molecula, r University of Campinas - Unicamp RCV000190277 SCV000188409 not provided Platyspondylic dysplasia, Torrance type no assertion provided not provided

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