Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000151876 | SCV000200366 | benign | not specified | 2011-06-07 | criteria provided, single submitter | clinical testing | -159T>C (no amino acid change) in SHOC2 exon 2: The -159T>C variant has not been previously reported in the literature but has been identified in our laboratory in four other probands. This variant is located in the 5'UTR and variants in re gulatory regions could have an effect on transcriptional or translational effici ency. However, only a single recurrent variant in SHOC2 has been proven to be pa thogenic to date. |
| Illumina Laboratory Services, |
RCV000363754 | SCV000360436 | benign | Noonan syndrome-like disorder with loose anagen hair 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. |
| Gene |
RCV001636613 | SCV001848156 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
| Genome Diagnostics Laboratory, |
RCV001813275 | SCV002060865 | uncertain significance | Noonan syndrome and Noonan-related syndrome | 2017-01-05 | criteria provided, single submitter | clinical testing |