ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp) (rs142566193)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623488 SCV000740972 uncertain significance Inborn genetic diseases 2015-09-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Illumina Clinical Services Laboratory,Illumina RCV001148693 SCV001309601 uncertain significance Dystrophic epidermolysis bullosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000193478 SCV000223923 likely pathogenic Recessive dystrophic epidermolysis bullosa 2014-10-13 no assertion criteria provided clinical testing

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