ClinVar Miner

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

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Total submissions: 2
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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
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000193478 SCV000223923 likely pathogenic Recessive dystrophic epidermolysis bullosa 2014-10-13 criteria provided, single submitter clinical testing

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