ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8234G>A (rs377182638)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services, CSIR - Centre for Cellular and Molecular Biology RCV000993563 SCV001142134 uncertain significance Recessive dystrophic epidermolysis bullosa; Pretibial epidermolysis bullosa; Epidermolysis bullosa pruriginosa 2019-12-17 criteria provided, single submitter clinical testing The c.8234G>A variant is not present in publicly available 1000 Genomes database. However it is present in Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP at a very low frequency, only in the heterozygous state (MAF <=0.0002). The variant is not present in our in-house exome database.The variant was not reported to OMIM, ClinVar and Human Genome Mutation Database (HGMD) in any other affected individuals. In-silico pathogenicity prediction programs like Polyphen, MutationTaster2, CADD etc. predicted this variant as likely deleterious. Based on ACMG guidelines the variant has been classified as uncertain significance.
Natera, Inc. RCV001278912 SCV001465958 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-23 no assertion criteria provided clinical testing

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