Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000712899 | SCV000843450 | uncertain significance | not provided | 2018-04-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316012 | SCV000849025 | likely benign | Inborn genetic diseases | 2017-06-08 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Fulgent Genetics, |
RCV000765337 | SCV000896600 | uncertain significance | Smith-Magenis syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000712899 | SCV001765983 | likely benign | not provided | 2021-02-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000712899 | SCV002362904 | likely benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003411653 | SCV004114487 | uncertain significance | RAI1-related condition | 2023-05-24 | criteria provided, single submitter | clinical testing | The RAI1 c.3589G>C variant is predicted to result in the amino acid substitution p.Gly1197Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-17699851-G-C), which is more common than expected for an undocumented cause of disease. Although we suspect this variant may be benign, at this time, its clinical significance is uncertain due to the absence of conclusive functional and genetic evidence. |