Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000382365 | SCV000464313 | uncertain significance | Hereditary sensory and autonomic neuropathy type 6 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000522851 | SCV000617987 | uncertain significance | not provided | 2022-01-17 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001086062 | SCV000654519 | benign | Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411249 | SCV002719312 | likely benign | Inborn genetic diseases | 2019-10-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV003950270 | SCV004764434 | benign | DST-related disorder | 2020-01-13 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |