ClinVar Miner

Submissions for variant NC_000004.11:g.(?_5630335)_(5635926_?)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 RCV003113677 SCV003796421 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-07-21 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 affected with EVC2-related conditions. This variant results in the deletion of exon 11 and part of exon 12 (c.1471-2167_1837del) of the EVC2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929).

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