Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000200054 | SCV000250369 | benign | not specified | 2014-06-19 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Eurofins Ntd Llc |
RCV000725233 | SCV000335189 | uncertain significance | not provided | 2015-09-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084931 | SCV000556036 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618420 | SCV000739047 | likely benign | Cardiovascular phenotype | 2016-07-12 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign) |
Center for Human Genetics, |
RCV000659653 | SCV000781496 | likely benign | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000720237 | SCV000851114 | likely benign | History of neurodevelopmental disorder | 2016-07-12 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign |
ARUP Laboratories, |
RCV000725233 | SCV000883902 | benign | not provided | 2023-03-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725233 | SCV002564137 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | FLNA: BP4, BP7, BS2 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000200054 | SCV004038915 | benign | not specified | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000725233 | SCV001926957 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000725233 | SCV001957248 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000725233 | SCV001973809 | likely benign | not provided | no assertion criteria provided | clinical testing |