Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000212810 | SCV000211490 | benign | not specified | 2014-06-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV000160817 | SCV000213606 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-24 | 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. |
Labcorp Genetics |
RCV001030300 | SCV000252862 | benign | Familial cancer of breast | 2025-02-04 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000588448 | SCV000601757 | benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000160817 | SCV000685945 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588448 | SCV000699563 | benign | not provided | 2016-09-16 | criteria provided, single submitter | clinical testing | Variant summary: The PALB2 c.2365C>T (p.Leu789Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 42/121310 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0036538 (38/10400). This frequency is about 23 times the estimated maximal expected allele frequency of a pathogenic PALB2 variant (0.0001563), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as Benign. |
Eurofins Ntd Llc |
RCV000212810 | SCV000859962 | likely benign | not specified | 2018-03-21 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798298 | SCV002043594 | likely benign | Breast and/or ovarian cancer | 2020-04-22 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000212810 | SCV002070563 | likely benign | not specified | 2018-04-18 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000160817 | SCV002530693 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-23 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000212810 | SCV004242688 | benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000588448 | SCV004562551 | benign | not provided | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001030300 | SCV001193216 | likely benign | Familial cancer of breast | 2019-05-13 | no assertion criteria provided | curation | Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz. |
Genome Diagnostics Laboratory, |
RCV000588448 | SCV001809795 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics Laboratory, |
RCV000588448 | SCV001905901 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000588448 | SCV002036091 | likely benign | not provided | no assertion criteria provided | clinical testing |