Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000250335 | SCV000319732 | likely benign | Cardiovascular phenotype | 2015-05-18 | 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. |
Eurofins Ntd Llc |
RCV000176619 | SCV000335710 | uncertain significance | not provided | 2015-09-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082496 | SCV000562877 | benign | Long QT syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001358770 | SCV001554642 | benign | not specified | 2021-03-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000176619 | SCV001747639 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | CACNA1C: BP4, BP7, BS1 |
Gene |
RCV000176619 | SCV001883300 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003224191 | SCV003919753 | likely benign | Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 2022-07-25 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF: 0.4% [41/10356] including 2 total homozygotes; https://gnomad.broadinstitute.org/variant/12-2716174-C-T?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:195932). Of note, this variant is a silent variant and does not change the amino acid, is not predicted to impact splicing, and this nucleotide position is poorly conserved evolutionarily, reducing the probability that this variant is disease-causing. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign. |
Clinical Genetics, |
RCV001358770 | SCV001921088 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001358770 | SCV001969103 | benign | not specified | no assertion criteria provided | clinical testing |