Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000291739 | SCV000404131 | uncertain significance | Infantile cortical hyperostosis | 2018-01-12 | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Illumina Laboratory Services, |
RCV000346597 | SCV000404132 | benign | Ehlers-Danlos syndrome, arthrochalasia type | 2018-01-12 | 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, |
RCV000399463 | SCV000404133 | likely benign | Osteogenesis imperfecta | 2018-01-12 | 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. |
Gene |
RCV000444155 | SCV000518621 | benign | not specified | 2016-12-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001087478 | SCV000627225 | likely benign | Osteogenesis imperfecta type I | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000659356 | SCV000781167 | likely benign | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000527323 | SCV001143188 | benign | not provided | 2018-11-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000527323 | SCV001473209 | likely benign | not provided | 2023-11-21 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002278492 | SCV002565508 | likely benign | Ehlers-Danlos syndrome | 2021-06-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000527323 | SCV004140811 | benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | COL1A1: BS1, BS2 |
Laboratory of Diagnostic Genome Analysis, |
RCV000527323 | SCV001799513 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000527323 | SCV001807546 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000527323 | SCV001930913 | likely benign | not provided | no assertion criteria provided | clinical testing |