Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038461 | SCV000062138 | likely benign | not specified | 2011-12-22 | criteria provided, single submitter | clinical testing | Ala121Ala in exon 4 of HRAS: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located in th e splice consensus sequence (rs146440188; identified in 0.014% (1/7020) of chrom osomes from a clinically unspecified population of European ancestry, NHBLI exom e seq. project). |
Invitae | RCV000560800 | SCV000635084 | likely benign | Costello syndrome | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001659973 | SCV001874555 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813352 | SCV002060514 | likely benign | Noonan syndrome and Noonan-related syndrome | 2018-10-01 | criteria provided, single submitter | clinical testing |