Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590156 | SCV000698705 | benign | not provided | 2017-07-05 | criteria provided, single submitter | clinical testing | Variant summary: The RASA2 c.2215C>G (p.Pro739Ala) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict benign outcome for this variant. This variant was found in 123/120440 control chromosomes at a frequency of 0.0010213, which is approximately 204 times the estimated maximal expected allele frequency of a pathogenic RASA2 variant (0.000005), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is classified as benign. |
| Labcorp Genetics |
RCV000590156 | SCV002434829 | benign | not provided | 2025-01-23 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004024683 | SCV002730841 | likely benign | not specified | 2022-03-04 | 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. |