Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079498 | SCV000111380 | benign | not specified | 2012-09-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000199168 | SCV000252747 | benign | Renal cell carcinoma | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000572842 | SCV000664673 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Gene |
RCV000079498 | SCV000724899 | likely benign | not specified | 2018-02-27 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000079498 | SCV000917633 | benign | not specified | 2017-12-04 | criteria provided, single submitter | clinical testing | Variant summary: The MET c.654G>A (p.Arg218Arg) variant involves the alteration of a non-conserved nucleotide located in the Sema domain (IPR001627) (InterPro), resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 125/276368 control chromosomes (1 homozygote; gnomAD) at a frequency of 0.0004523, which is approximately 302 times the estimated maximal expected allele frequency of a pathogenic MET variant (0.0000015), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign. |
Sema4, |
RCV000572842 | SCV002532176 | benign | Hereditary cancer-predisposing syndrome | 2020-12-01 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000079498 | SCV005090765 | likely benign | not specified | 2024-07-31 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004704840 | SCV005221491 | likely benign | not provided | criteria provided, single submitter | not provided |