ClinVar Miner

Submissions for variant NC_000011.9:g.(?_44146456)_(44156975_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004580210 SCV005064213 pathogenic Exostoses, multiple, type 2 2018-10-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 19810120). A similar deletion has been observed in an individual affected with hereditary multiple osteochondromatosis (PMID: 22258776). This variant is a deletion of the genomic region encompassing exons 6-7 and part of exon 5 (c.861_1173+5287del) of the EXT2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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