ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1136_1563+515del

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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 RCV001235873 SCV001408579 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-08-15 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 9 and exons 10-11 (c.1136_1563+515del) of the EVC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a EVC-related disease. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). 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.

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