Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000681936 | SCV001581351 | pathogenic | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC7A9 are known to be pathogenic (PMID: 11157794). This variant has been observed in combination with another SLC7A9 variant in an individual affected with cystinuria type B (PMID: 25296721). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr451*) in the SLC7A9 gene. It is expected to result in an absent or disrupted protein product. |
Fulgent Genetics, |
RCV002499211 | SCV002805698 | pathogenic | Cystinuria | 2021-08-27 | criteria provided, single submitter | clinical testing | |
Gharavi Laboratory, |
RCV000681936 | SCV000809422 | likely pathogenic | not provided | 2018-09-16 | no assertion criteria provided | research |