ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.71-7dup

dbSNP: rs144776919
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704771 SCV000729013 benign not provided 2018-05-02 criteria provided, single submitter clinical testing
Invitae RCV002066673 SCV002410458 benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2024-02-01 criteria provided, single submitter clinical testing

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