ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.7068+5G>A

gnomAD frequency: 0.00002  dbSNP: rs779875751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850542 SCV000992753 uncertain significance Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa 2012-09-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001148798 SCV001309709 uncertain significance Epidermolysis bullosa dystrophica 2017-04-28 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.
Biomedical Innovation Departament, CIEMAT RCV001148798 SCV001547368 pathogenic Epidermolysis bullosa dystrophica 2014-02-12 criteria provided, single submitter research

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