Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038943 | SCV000062621 | likely benign | not specified | 2013-06-08 | criteria provided, single submitter | clinical testing | Ser157Ser in exon 4 of PRKAG2: This variant is not expected to have clinical sig nificance because it is does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/8600 European American chromosomes and 1/4406 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs141804012). Ser1 57Ser in exon 4 of PRKAG2 (rs141804012; allele frequency = 2/8600) ** |
Gene |
RCV000038943 | SCV000171192 | benign | not specified | 2016-09-08 | 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 | RCV000252984 | SCV000318333 | likely benign | Cardiovascular phenotype | 2017-03-14 | 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 |
RCV001084750 | SCV000762833 | likely benign | Lethal congenital glycogen storage disease of heart | 2024-01-25 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769253 | SCV000900629 | likely benign | Cardiomyopathy | 2023-04-03 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000769253 | SCV000914079 | likely benign | Cardiomyopathy | 2018-09-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000641195 | SCV001155321 | likely benign | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001163068 | SCV001325070 | uncertain significance | Hypertrophic cardiomyopathy 6 | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001163069 | SCV001325071 | uncertain significance | Wolff-Parkinson-White pattern | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000038943 | SCV003801122 | benign | not specified | 2023-01-29 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000038943 | SCV001919585 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000641195 | SCV001928900 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000641195 | SCV001970381 | likely benign | not provided | no assertion criteria provided | clinical testing |