Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723666 | SCV000111158 | uncertain significance | not provided | 2016-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086024 | SCV000285592 | benign | Long QT syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000250233 | SCV000305449 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000617472 | SCV000735225 | likely benign | Cardiovascular phenotype | 2015-11-19 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign |
Ambry Genetics | RCV000716637 | SCV000847479 | likely benign | History of neurodevelopmental disorder | 2015-11-19 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |
ARUP Laboratories, |
RCV000723666 | SCV001159757 | benign | not provided | 2022-10-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000723666 | SCV001939305 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000723666 | SCV002544991 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | CACNA1C: BP4, BS2 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000250233 | SCV003929073 | benign | not specified | 2023-04-10 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000723666 | SCV001740612 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000250233 | SCV001919350 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000250233 | SCV001955143 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000723666 | SCV001971913 | likely benign | not provided | no assertion criteria provided | clinical testing |