ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.2405G>T (p.Gly802Val)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000790932 SCV000930184 likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791086 SCV000930357 likely pathogenic Osteogenesis imperfecta 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791087 SCV000930358 likely pathogenic Osteogenesis imperfecta type III 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791088 SCV000930359 likely pathogenic EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 2019-04-27 criteria provided, single submitter clinical testing

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