Total submissions: 8
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Breakthrough Genomics, |
RCV000870938 | SCV005260392 | likely benign | not provided | criteria provided, single submitter | not provided | ||
| Ce |
RCV000870938 | SCV004123817 | likely benign | not provided | 2026-02-01 | criteria provided, single submitter | clinical testing | ORC1: BP4, BS2 |
| Fulgent Genetics, |
RCV000509535 | SCV002798004 | likely benign | Meier-Gorlin syndrome 1 | 2021-09-29 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000870938 | SCV001012514 | benign | not provided | 2026-02-01 | criteria provided, single submitter | clinical testing | |
| Genetic Services Laboratory, |
RCV000501625 | SCV000596168 | benign | not specified | 2017-04-19 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000509535 | SCV000358066 | likely benign | Meier-Gorlin syndrome 1 | 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. |
| Prevention |
RCV003940123 | SCV004749826 | benign | ORC1-related disorder | 2019-06-27 | 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). |
| Genome |
RCV000509535 | SCV000607092 | not provided | Meier-Gorlin syndrome 1 | no classification provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |