ClinVar Miner

Submissions for variant NC_000007.13:g.(?_94037139)_(94038155_?)dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793490 SCV000932842 pathogenic Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2018-07-11 criteria provided, single submitter clinical testing This sequence change is a complex rearrangement involving exons 13-17. Although the exact nature of the event is unknown, it is likely that it results in duplication of exons 13-17 that are inserted into intron 17 and within that duplication exons 13-15 are inverted. This is expected to result in an absent or disrupted protein product. This variant has been observed to be de novo in an individual with osteogenesis imperfecta (Invitae). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001869252 SCV002176734 pathogenic Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2018-07-05 criteria provided, single submitter clinical testing This sequence change is a complex rearrangement involving exons 13-17. Although the exact nature of the event is unknown, it is likely that it results in duplication of exons 13-17 that are inserted into intron 17 and within that duplication exons 13-15 are inverted. This is expected to result in an absent or disrupted protein product. This variant has been observed to be de novo in an individual with osteogenesis imperfecta (Invitae). For these reasons, this variant has been classified as Pathogenic.

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