Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000229592 | SCV000288809 | benign | Cowden syndrome 6 | 2025-01-23 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001727648 | SCV001157498 | benign | not provided | 2020-02-27 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV001727648 | SCV002010393 | likely benign | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379002 | SCV002671217 | likely benign | Inborn genetic diseases | 2022-02-12 | 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. |
Ce |
RCV001727648 | SCV004135309 | likely benign | not provided | 2025-02-01 | criteria provided, single submitter | clinical testing | AKT1: BP4, BP7, BS2 |
Breakthrough Genomics, |
RCV001727648 | SCV005211553 | likely benign | not provided | criteria provided, single submitter | not provided | ||
KCCC/NGS Laboratory, |
RCV000229592 | SCV005880818 | benign | Cowden syndrome 6 | 2025-02-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001579879 | SCV001808829 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727648 | SCV001971341 | likely benign | not provided | no assertion criteria provided | clinical testing |