Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001082865 | SCV000285588 | benign | Long QT syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000243680 | SCV000319748 | benign | Cardiovascular phenotype | 2015-07-28 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590077 | SCV000697543 | benign | not provided | 2016-01-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000716456 | SCV000847297 | benign | History of neurodevelopmental disorder | 2015-07-28 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
ARUP Laboratories, |
RCV000590077 | SCV001474430 | benign | not provided | 2023-08-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000590077 | SCV001946014 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing |