ClinVar Miner

Submissions for variant NC_000003.11:g.(?_48627960)_(48631079_?)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 RCV004582239 SCV005066362 pathogenic not provided 2023-10-24 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 3, exons 4-13 and part of exon 14 (c.317_1838del) of the COL7A1 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 COL7A1 are known to be pathogenic (PMID: 16971478). This variant has not been reported in the literature in individuals affected with COL7A1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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