Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079309 | SCV000111179 | benign | not specified | 2013-07-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000227726 | SCV000285605 | benign | Long QT syndrome | 2025-02-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000248618 | SCV000318481 | benign | Cardiovascular phenotype | 2016-07-14 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000079309 | SCV000919074 | benign | not specified | 2018-02-05 | criteria provided, single submitter | clinical testing | Variant summary: CACNA1C c.771C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0029 in 271784 control chromosomes, predominantly within the African subpopulation at a frequency of 0.031, including 10 homozygotes in the gnomAD database. The observed variant frequency within African control individuals in the gnomAD database is approximately 3000 fold of the estimated maximal expected allele frequency for a pathogenic variant in CACNA1C causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African origin. To our knowledge, no occurrence of c.771C>T in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign. |
ARUP Laboratories, |
RCV001636638 | SCV001157278 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001636638 | SCV001849514 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000079309 | SCV006066703 | benign | not specified | 2025-04-09 | criteria provided, single submitter | clinical testing |