Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514987 | SCV000610037 | likely benign | not provided | 2017-06-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083759 | SCV000634160 | benign | Leukocyte adhesion deficiency 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001083759 | SCV001298393 | likely benign | Leukocyte adhesion deficiency 1 | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Fulgent Genetics, |
RCV001083759 | SCV002802949 | likely benign | Leukocyte adhesion deficiency 1 | 2022-04-22 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV001083759 | SCV003920072 | likely benign | Leukocyte adhesion deficiency 1 | 2022-07-15 | criteria provided, single submitter | clinical testing | This variant has been reported in the literature in at least 10 individuals with chronic lymphocytic leukemia (CLL) (Goldin 2016 PMID:27629550, Blackburn 2017 PMID:28490671); however at least 1 study did not identify an enrichment of the variant in cases vs. controls. This variant was also identified in 3 individuals with congenital heart defects (Russell 2019 PMID:31453292). This variant is present in the Genome Aggregation Database (Highest reported MAF 2.1% (226/10616) including 8 homozygotes (https://gnomad.broadinstitute.org/variant/21-44888885-C-T?dataset=gnomad_r3). This variant is present in ClinVar, with multiple labs classifying this variant as Benign or Likely Benign (Variation ID:445547). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign. |