ClinVar Miner

Submissions for variant NC_000004.11:g.(?_5567008)_(5587839_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002041583 SCV002107543 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-04-01 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals with EVC2-related conditions. This variant results in a copy number gain of the genomic region encompassing exon(s) 17-20 of the EVC2 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929).

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