Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000791410 | SCV000261536 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566750 | SCV000662446 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-01-13 | criteria provided, single submitter | clinical testing | The p.I1200V variant (also known as c.3598A>G), located in coding exon 7 of the MSH6 gene, results from an A to G substitution at nucleotide position 3598. The isoleucine at codon 1200 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
Mendelics | RCV000204738 | SCV000837918 | uncertain significance | Lynch syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000566750 | SCV001342056 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002243889 | SCV002512750 | uncertain significance | Lynch syndrome 5 | 2021-10-26 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 moderate, BP4 supporting |
Gene |
RCV002277568 | SCV002567440 | uncertain significance | not provided | 2022-08-22 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 17531815, 21120944) |
Baylor Genetics | RCV003462389 | SCV004195790 | uncertain significance | Endometrial carcinoma | 2023-05-11 | criteria provided, single submitter | clinical testing |