Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079688 | SCV000111571 | uncertain significance | not provided | 2017-01-31 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000079688 | SCV000151185 | uncertain significance | not provided | 2013-10-16 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000259078 | SCV000613323 | benign | not specified | 2019-11-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000620917 | SCV000739054 | likely benign | Cardiovascular phenotype | 2017-03-01 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign |
Center for Human Genetics, |
RCV000659650 | SCV000781493 | likely benign | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000720787 | SCV000851669 | likely benign | History of neurodevelopmental disorder | 2017-03-01 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |
Invitae | RCV001089423 | SCV001003192 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-18 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000259078 | SCV001157351 | likely benign | not specified | 2018-10-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000079688 | SCV001907168 | benign | not provided | 2015-08-10 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000079688 | SCV001928238 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000079688 | SCV001970174 | likely benign | not provided | no assertion criteria provided | clinical testing |