Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000033108 | SCV001288793 | uncertain significance | Donnai-Barrow syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Invitae | RCV001362989 | SCV001559058 | likely benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000033108 | SCV002055098 | uncertain significance | Donnai-Barrow syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001362989 | SCV002512914 | uncertain significance | not provided | 2022-04-22 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Reported previously in the heterozygous state in an individual with Dent disease (Gianesello et al., 2020); This variant is associated with the following publications: (PMID: 30152016, 31589614, 35026467, 31947599, 33921825, 25533962, 23033978) |
OMIM | RCV000033108 | SCV000056889 | pathogenic | Donnai-Barrow syndrome | 2012-11-15 | no assertion criteria provided | literature only | |
Genome |
RCV000033108 | SCV004228848 | not provided | Donnai-Barrow syndrome | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 12-27-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |