ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4899+31G>A

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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 RCV001352847 SCV001547313 pathogenic Dystrophic epidermolysis bullosa 2019-03-15 criteria provided, single submitter research
GeneDx RCV001568828 SCV001792767 likely benign not provided 2019-07-12 no assertion criteria provided clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Has not been previously published as pathogenic or benign to our knowledge

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