ClinVar Miner

Submissions for variant NC_000008.10:g.(?_116426251)_(120844804_?)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 RCV004583270 SCV005062880 pathogenic Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I 2023-04-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with TRPS1-related disease (PMID: 25792522; Invitae). A gross deletion of the genomic region encompassing the full coding sequence of the TRPS1 gene has been identified. Loss-of-function variants in TRPS1 are known to be pathogenic (PMID: 11112658). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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