Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001080618 | SCV000262441 | benign | Long QT syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000079284 | SCV000335662 | likely benign | not specified | 2017-06-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000620022 | SCV000735962 | benign | Cardiovascular phenotype | 2017-12-27 | criteria provided, single submitter | clinical testing | Does not segregate with disease in family study (genes with incomplete penetrance);In silico models in agreement (benign);Subpopulation frequency in support of benign classification |
Ambry Genetics | RCV000718458 | SCV000849321 | benign | History of neurodevelopmental disorder | 2017-12-27 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification,Does not segregate with disease in family study (genes with incomplete penetrance) |
ARUP Laboratories, |
RCV001668189 | SCV000885136 | benign | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852662 | SCV000995368 | benign | Hypertrophic cardiomyopathy | 2018-02-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001668189 | SCV001891713 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24439875) |
Ce |
RCV001668189 | SCV002544990 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | CACNA1C: PP2, BS1 |
Victorian Clinical Genetics Services, |
RCV002470758 | SCV002767743 | likely benign | Timothy syndrome | 2020-10-19 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.3, this variant is classified as likely benign. Following criteria are met: 0101 - Gain of function is a known mechanism of disease in this gene and is associated with Long QT syndrome 8 (MIM #618447), and Timothy syndrome (MIM#601005). Missense variants result in loss of channel inactivation, and increased current (OMIM, PMID: 25260352). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from proline to serine. (I) 0251 - This variant is heterozygous. (I) 0308 - Population frequency for this variant is out of keeping with known incidence of Timothy syndrome and LQTS. Variant is present in gnomAD (503 heterozygotes (v2), 1 homozygote (v3)). (SB) 0502 - Missense variant with conflicting in silico predictions and uninformative conservation. (I) 0805 - This variant has strong previous evidence of being benign in unrelated individuals. This variant has one likely benign and five benign entries in ClinVar. (SB) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |
Prevention |
RCV003925044 | SCV004743357 | benign | CACNA1C-related disorder | 2019-05-17 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genome Diagnostics Laboratory, |
RCV001668189 | SCV001928608 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000079284 | SCV001956494 | benign | not specified | no assertion criteria provided | clinical testing |