ClinVar Miner

Submissions for variant NC_000004.11:g.(?_2200251)_(5710240_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386270 SCV001586434 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2020-07-17 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the EVC2 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of EVC2 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 25174843, 18454448). Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). For these reasons, this variant has been classified as Pathogenic.

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