Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001573017 | SCV001473372 | benign | not provided | 2023-10-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001573017 | SCV004152897 | benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | DSPP: PP3, BS1, BS2 |
Ambry Genetics | RCV004035540 | SCV004859872 | likely benign | Inborn genetic diseases | 2021-09-01 | 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. |
Breakthrough Genomics, |
RCV001573017 | SCV005303244 | benign | not provided | criteria provided, single submitter | not provided | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001573017 | SCV001798283 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001573017 | SCV001970321 | likely benign | not provided | no assertion criteria provided | clinical testing |