ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.475G>A (p.Val159Ile) (rs886062514)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000680484 SCV000807862 uncertain significance Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378886 SCV000470559 uncertain significance Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286860 SCV000470560 uncertain significance Ehlers-Danlos syndrome, procollagen proteinase deficient 2016-06-14 criteria provided, single submitter clinical testing

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