Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698095 | SCV000726524 | likely benign | not provided | 2019-06-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621088 | SCV000739106 | likely benign | Cardiovascular phenotype | 2017-04-03 | 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 | RCV000718600 | SCV000849464 | likely benign | History of neurodevelopmental disorder | 2017-04-03 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |
Invitae | RCV000864793 | SCV001005651 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-10-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945526 | SCV004764962 | likely benign | FLNA-related condition | 2022-02-23 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |