ClinVar Miner

Submissions for variant NC_000004.11:g.(?_5690874)_(5696238_?)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 RCV003113676 SCV003796420 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-12-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the EVC2 protein in which other variant(s) (p.Asp207Tyr) have been determined to be pathogenic (PMID: 19251731, 29068549). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with EVC2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 3-5 of the EVC2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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