ClinVar Miner

Submissions for variant NC_000011.10:g.(?_44171591)_(44171762_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551540 SCV000640980 pathogenic Exostoses, multiple, type 2 2022-06-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 8 of the EXT2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with multiple osteochondromas (PMID: 18165274, 19810120). For these reasons, this variant has been classified as Pathogenic.

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