ClinVar Miner

Submissions for variant NC_000008.10:g.(?_118819436)_(118847810_?)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 RCV001385814 SCV001585779 pathogenic Multiple congenital exostosis 2020-10-08 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon(s) 3-9 of the EXT1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with EXT1-related conditions. Loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120). For these reasons, this variant has been classified as Pathogenic.

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