Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000009405 | SCV000267375 | likely pathogenic | Long QT syndrome 13 | 2016-03-18 | criteria provided, single submitter | reference population | |
Illumina Laboratory Services, |
RCV000312115 | SCV000368951 | likely benign | Familial hyperaldosteronism type III | 2017-04-27 | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV000865749 | SCV001006764 | likely benign | Long QT syndrome | 2022-10-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003162221 | SCV003861823 | benign | Cardiovascular phenotype | 2022-11-28 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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. |
OMIM | RCV000009405 | SCV000029623 | pathogenic | Long QT syndrome 13 | 2014-03-25 | no assertion criteria provided | literature only | |
Gene |
RCV000193019 | SCV000243881 | not provided | Andersen Tawil syndrome | no assertion provided | literature only |