Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Yang An- |
RCV000504616 | SCV000583425 | pathogenic | Breast neoplasm | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002527116 | SCV003460738 | pathogenic | Familial cancer of breast | 2023-12-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp218*) in the BARD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with a personal and/or family history of breast and/or ovarian cancer (PMID: 29566657). ClinVar contains an entry for this variant (Variation ID: 430590). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV003488634 | SCV004238493 | likely pathogenic | not provided | 2022-04-12 | criteria provided, single submitter | clinical testing |