Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000423187 | SCV000513429 | likely benign | not provided | 2016-10-03 | 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. |
Laboratory for Molecular Medicine, |
RCV000825179 | SCV000966453 | likely benign | not specified | 2018-04-06 | criteria provided, single submitter | clinical testing | c.451-11A>G in intron 4 of KRAS: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. Computational tools do not predict an impac t on splicing. It has been identified in 12/124590 European chromosomes by the G enome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs36 9047577). ACMG/AMP Criteria applied: BS1_Supporting; BP4. |
Labcorp Genetics |
RCV002061415 | SCV002486265 | likely benign | RASopathy | 2023-08-02 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000423187 | SCV004563521 | likely benign | not provided | 2023-11-03 | criteria provided, single submitter | clinical testing |