ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.2392G>A (p.Gly798Arg) (rs202237834)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490367 SCV000267270 uncertain significance Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epidermolysis bullosa 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000937223 SCV001083005 likely benign not provided 2020-11-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001146519 SCV001307268 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.
Natera, Inc. RCV001273594 SCV001456752 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-01-09 no assertion criteria provided clinical testing

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