ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.*654_*655insGTTGTCC

dbSNP: rs3917
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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 RCV000324325 SCV000470655 benign Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358049 SCV000470656 benign Ehlers-Danlos syndrome, arthrochalasia type 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001535048 SCV001752026 benign not provided 2019-04-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23849651, 30825231, 28738217)

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