ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.6081C>T (p.Pro2027=) (rs375047225)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000915017 SCV001060212 benign not provided 2020-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001146128 SCV001306848 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001275988 SCV001461690 benign Epidermolysis bullosa dystrophica inversa, autosomal recessive 2019-12-25 no assertion criteria provided clinical testing

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