ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8206G>A (rs779942952)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779413 SCV000916026 uncertain significance Dystrophic epidermolysis bullosa 2017-05-01 criteria provided, single submitter clinical testing The COL7A1 c.8206G>A (p.Glu2736Lys) missense variant has been reported in a compound heterozygous state in one individual with dystrophic epidermolysis bullosa (Schumann et al. 2008). The p.Glu2736Lys variant was absent from 100 control chromosomes and is reported at a frequency of 0.00042 in the Latino population of the Exome Aggregation Consortium. The evidence for this variant is limited. The p.Glu2736Lys variant is classified as a variant of unknown significance but suspicious for pathogenicity for dystrophic epidermolysis bullosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Biomedical Innovation Departament, CIEMAT RCV000779413 SCV001547392 pathogenic Dystrophic epidermolysis bullosa 2018-12-01 criteria provided, single submitter research

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