Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547685 | SCV000631345 | likely benign | Dyskeratosis congenita | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Godley laboratory, |
RCV001172447 | SCV001250899 | uncertain significance | Cerebroretinal microangiopathy with calcifications and cysts 1 | 2020-05-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001569942 | SCV001794116 | uncertain significance | not provided | 2023-07-11 | criteria provided, single submitter | clinical testing | Clinical RNA sequencing from patient tissue as performed by an outside laboratory showed no evidence of any splicing alterations in intron 1 of CTC1 compared to tissue-matched controls, suggesting that this variant does not impact splicing; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Genome- |
RCV001172447 | SCV002054486 | uncertain significance | Cerebroretinal microangiopathy with calcifications and cysts 1 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000547685 | SCV002531304 | uncertain significance | Dyskeratosis congenita | 2021-09-15 | criteria provided, single submitter | curation |