Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000266814 | SCV000759917 | benign | Kleefstra syndrome 1 | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001568167 | SCV001791991 | likely benign | not provided | 2019-06-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002524595 | SCV003719183 | likely benign | Inborn genetic diseases | 2022-03-14 | 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. |
Prevention |
RCV003422373 | SCV004117762 | uncertain significance | EHMT1-related condition | 2023-04-17 | criteria provided, single submitter | clinical testing | The EHMT1 c.1160G>A variant is predicted to result in the amino acid substitution p.Arg387His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-140638532-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |