ClinVar Miner

Submissions for variant NC_000004.11:g.(?_5798739)_(5798969_?)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 RCV001381619 SCV001580089 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2020-01-11 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 14 of the EVC gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed in individuals with a clinical diagnosis of Ellis-van Creveld syndrome (Invitae). Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). For these reasons, this variant has been classified as Pathogenic.

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