ClinVar Miner

Submissions for variant NC_000004.12:g.(?_5689147)_(5689353_?)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 RCV000802593 SCV000942430 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2018-08-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). This variant has not been reported in the literature in individuals with EVC2-related disease. This variant is an out-of-frame deletion of the genomic region encompassing exon 5 of the EVC2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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