ClinVar Miner

Submissions for variant NM_152281.3(GORAB):c.596T>G (p.Val199Gly)

dbSNP: rs764819857
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001007878 SCV001167581 uncertain significance Geroderma osteodysplastica 2018-10-11 criteria provided, single submitter clinical testing

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