Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004565908 | SCV004504476 | likely benign | Familial adenomatous polyposis 1 | 2024-04-03 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004661724 | SCV005151705 | likely benign | Hereditary cancer-predisposing syndrome | 2024-05-25 | 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. |
| Institute for Biomarker Research, |
RCV004661724 | SCV005415618 | likely benign | Hereditary cancer-predisposing syndrome | 2024-11-12 | criteria provided, single submitter | clinical testing | The synonymous variant NM_000038.6(APC):c.7428G>A (p.Arg2476=) has been reported to ClinVar as Likely benign with a status of (2 stars) criteria provided, multiple submitters, no conflicts (Variation ID 2844401 as of 2024-10-03). The p.Arg2476= variant is novel (not in any individuals) in gnomAD. The p.Arg2476= variant is novel (not in any individuals) in 1kG. The p.Arg2476= variant is not predicted to disrupt an existing splice site. The p.Arg2476= variant results in a substitution of a base that is not predicted conserved by GERP++ and PhyloP. For these reasons, this variant has been classified as Likely Benig |