ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1252-6del

dbSNP: rs886062516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000395570 SCV000470585 uncertain significance Ehlers-Danlos syndrome, arthrochalasia type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000313168 SCV000470586 uncertain significance Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002058684 SCV002430767 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2021-03-29 criteria provided, single submitter clinical testing

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