ClinVar Miner

Submissions for variant NC_000004.11:g.(?_5576402)_(5576509_?)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 RCV003113673 SCV003796417 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-12-17 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 19 of the EVC2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. 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 affected with EVC2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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