Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000989563 | SCV000561117 | benign | Familial cancer of breast | 2024-12-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000570008 | SCV000666885 | likely benign | Hereditary cancer-predisposing syndrome | 2016-02-03 | 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. |
Color Diagnostics, |
RCV000570008 | SCV000685909 | likely benign | Hereditary cancer-predisposing syndrome | 2016-09-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721538 | SCV000716282 | likely benign | not provided | 2020-05-08 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989563 | SCV001140022 | likely benign | Familial cancer of breast | 2019-05-28 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316618 | SCV004016504 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 5 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003987551 | SCV004803926 | likely benign | not specified | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001721538 | SCV005213523 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV004740249 | SCV005342585 | likely benign | PALB2-related disorder | 2020-02-17 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |