ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6861A>G (p.Gly2287=)

dbSNP: rs1315644130
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352822 SCV001547365 pathogenic Epidermolysis bullosa dystrophica 2020-02-11 criteria provided, single submitter research
GeneDx RCV002508309 SCV002817790 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In-silico analysis is inconclusive as to whether the variant alters gene splicing; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown; This variant is associated with the following publications: (PMID: 10469344)

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