ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.*1384_*1387del

gnomAD frequency: 0.00010  dbSNP: rs886053139
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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 RCV000322906 SCV000403963 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000377712 SCV000403964 uncertain significance Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000283165 SCV000403965 uncertain significance Infantile cortical hyperostosis 2016-06-14 criteria provided, single submitter clinical testing

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