ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.*245_*246dup

dbSNP: rs886053155
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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 RCV000262203 SCV000404062 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000331356 SCV000404063 uncertain significance Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385847 SCV000404064 uncertain significance Infantile cortical hyperostosis 2016-06-14 criteria provided, single submitter clinical testing

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