ClinVar Miner

Submissions for variant NC_000004.11:g.(?_5630276)_(5633769_?)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 RCV001953571 SCV002241407 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-03-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with EVC2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 11-12 of the EVC2 gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and 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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