Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gemeinschaftspraxis fuer Humangenetik Dresden | RCV002223100 | SCV002499982 | likely pathogenic | Familial cancer of breast | 2021-10-14 | criteria provided, single submitter | clinical testing | This mutation c.58A>T, p.(Lys20*) is not reported in HGMD 2021.4, gnomAD (v2.1.1), dbSNP (v151) or LOVD. ACMG: PVS1, PM2 |
Myriad Genetics, |
RCV002223100 | SCV004189425 | pathogenic | Familial cancer of breast | 2023-09-05 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |