ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.3359G>A (p.Arg1120Lys) (rs2228563)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000954396 SCV001101027 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001150682 SCV001311770 likely benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Natera, Inc. RCV001272619 SCV001454729 benign Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-01-03 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000954396 SCV001808690 likely benign not provided no assertion criteria provided clinical testing

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