ClinVar Miner

Submissions for variant NC_000004.11:g.(?_5733142)_(5735172_?)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 RCV001377971 SCV001575434 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-04-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4-5 of the EVC gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with clinical features of Ellis-van Creveld syndrome (Invitae). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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