Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001141202 | SCV001301531 | uncertain significance | Noonan syndrome 4 | 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, 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, |
RCV001141203 | SCV001301532 | uncertain significance | Fibromatosis, gingival, 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, 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. |
Ambry Genetics | RCV002339415 | SCV002619321 | uncertain significance | Cardiovascular phenotype | 2021-12-23 | criteria provided, single submitter | clinical testing | The p.I1198V variant (also known as c.3592A>G), located in coding exon 23 of the SOS1 gene, results from an A to G substitution at nucleotide position 3592. The isoleucine at codon 1198 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Genome- |
RCV001141202 | SCV002763559 | uncertain significance | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV001141203 | SCV002763561 | uncertain significance | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing | ||
Fulgent Genetics, |
RCV002505713 | SCV002815586 | uncertain significance | Fibromatosis, gingival, 1; Noonan syndrome 4 | 2022-01-06 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003142076 | SCV003822085 | uncertain significance | not provided | 2021-05-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003539387 | SCV004249670 | likely benign | RASopathy | 2023-06-19 | criteria provided, single submitter | clinical testing |