Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002110821 | SCV002439637 | benign | not provided | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002400338 | SCV002713841 | likely benign | Inborn genetic diseases | 2020-03-24 | 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 |
RCV003418388 | SCV004115212 | uncertain significance | NEFH-related disorder | 2023-04-18 | criteria provided, single submitter | clinical testing | The NEFH c.1739C>T variant is predicted to result in the amino acid substitution p.Ser580Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-29885368-C-T). 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. |
Breakthrough Genomics, |
RCV002110821 | SCV005273947 | benign | not provided | criteria provided, single submitter | not provided |