Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000304610 | SCV000356917 | benign | Familial cold autoinflammatory syndrome 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV000361620 | SCV000356918 | benign | Chronic infantile neurological, cutaneous and articular syndrome | 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. |
Illumina Laboratory Services, |
RCV000395080 | SCV000356919 | benign | Familial amyloid nephropathy with urticaria AND deafness | 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. |
Laboratory for Molecular Medicine, |
RCV000615860 | SCV000731898 | benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Tyr143Tyr in exon 5 of NLRP3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 2.26% (226/10022) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs56710146). |
Labcorp Genetics |
RCV001083594 | SCV000767333 | benign | Cryopyrin associated periodic syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001689979 | SCV000885856 | benign | not provided | 2021-05-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001689979 | SCV001912217 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262941 | SCV002542636 | benign | Autoinflammatory syndrome | 2022-04-19 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001689979 | SCV005283131 | benign | not provided | criteria provided, single submitter | not provided | ||
Genome Diagnostics Laboratory, |
RCV001689979 | SCV001927485 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000615860 | SCV001968805 | benign | not specified | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004537665 | SCV004748815 | benign | NLRP3-related disorder | 2021-01-28 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |