Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216631 | SCV000270859 | likely benign | not specified | 2015-02-26 | criteria provided, single submitter | clinical testing | p.Asn1020Asn in exon 19 of SOS1: 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 1/8624 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs142431345). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000216631 | SCV001361401 | likely benign | not specified | 2019-11-16 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001459899 | SCV001663755 | likely benign | RASopathy | 2022-10-25 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813430 | SCV002060652 | likely benign | Noonan syndrome and Noonan-related syndrome | 2021-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444858 | SCV002752968 | likely benign | Cardiovascular phenotype | 2021-02-09 | 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. |
Genome- |
RCV002467679 | SCV002763248 | likely benign | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002467678 | SCV002763249 | likely benign | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing | ||
Prevention |
RCV003897474 | SCV004715183 | likely benign | SOS1-related disorder | 2022-06-22 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |