Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pathology and Laboratory Medicine, |
RCV000503120 | SCV000592389 | pathogenic | Lynch syndrome | 2015-12-02 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000757466 | SCV000885703 | pathogenic | not provided | 2017-10-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002376915 | SCV002688381 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-04-25 | criteria provided, single submitter | clinical testing | The c.949delC pathogenic mutation, located in coding exon 11 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 949, causing a translational frameshift with a predicted alternate stop codon (p.L317Cfs*50). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Myriad Genetics, |
RCV003449397 | SCV004187647 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-18 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |