Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000245176 | SCV000303075 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000359939 | SCV000353609 | benign | Junctional epidermolysis bullosa | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000245176 | SCV000917569 | benign | not specified | 2018-08-06 | criteria provided, single submitter | clinical testing | Variant summary: LAMB3 c.2554A>T (p.Met852Leu) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.13 in 275034 control chromosomes in the gnomAD database, including 2706 homozygotes (gnomAD). The observed variant frequency is approximately 135-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in LAMB3 causing Junctional Epidermolysis Bullosa phenotype (0.00093), strongly suggesting that the variant is benign. A ClinVar submission from another clinical diagnostic laboratory (evaluation after 2014) cites the variant as benign. Based on the evidence outlined above, the variant was classified as benign. |
Invitae | RCV001511724 | SCV001719016 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001537657 | SCV001754586 | benign | Junctional epidermolysis bullosa, non-Herlitz type | 2021-07-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001537781 | SCV001754738 | benign | Amelogenesis imperfecta type 1A | 2021-07-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001537782 | SCV001754739 | benign | Junctional epidermolysis bullosa gravis of Herlitz | 2021-07-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001511724 | SCV001939624 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing |