Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226902 | SCV000283530 | likely benign | Hereditary hemorrhagic telangiectasia | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000454429 | SCV000539100 | uncertain significance | not specified | 2016-04-25 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 2 probands, no segs in HGMD; ExAC: 0.2% (25/11560) Latino chromosomes |
Wendy Chung Laboratory, |
RCV000664173 | SCV000784732 | uncertain significance | Pulmonary arterial hypertension associated with congenital heart disease | 2018-06-27 | criteria provided, single submitter | case-control | |
Illumina Laboratory Services, |
RCV001166478 | SCV001328859 | benign | Telangiectasia, hereditary hemorrhagic, type 1 | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Gene |
RCV002225526 | SCV002504123 | likely benign | not provided | 2020-10-01 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ambry Genetics | RCV002399808 | SCV002704491 | likely benign | Cardiovascular phenotype | 2017-01-03 | 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. |
Molecular Genetics, |
RCV001166478 | SCV004812797 | likely benign | Telangiectasia, hereditary hemorrhagic, type 1 | 2023-05-04 | criteria provided, single submitter | clinical testing | European Non-Finnish population allele frequency is 0.12% (rs142896669, 54/35,428 alleles, 0 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.4.1, this variant is classified as LIKELY BENIGN. Following criteria are met: BS1 |
Rare Disease Genomics Group, |
RCV000488732 | SCV000576357 | pathogenic | Pulmonary hypertension, primary, 1 | no assertion criteria provided | literature only |