Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000606201 | SCV000731911 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Arg173Arg in exon 4 of PTPN11: 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. It has been identified in 0.03% (5/16512) o f South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs767425313). |
Invitae | RCV001466747 | SCV001670756 | likely benign | RASopathy | 2022-05-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498983 | SCV002808109 | likely benign | Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 | 2021-12-14 | criteria provided, single submitter | clinical testing |