Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788845 | SCV000928112 | likely pathogenic | not provided | 2018-12-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000816190 | SCV000956685 | pathogenic | Nephronophthisis | 2023-11-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg603*) in the INVS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in INVS are known to be pathogenic (PMID: 12872123). This variant is present in population databases (rs121964994, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with nephronophthisis (PMID: 12872123, 21866095). ClinVar contains an entry for this variant (Variation ID: 11959). For these reasons, this variant has been classified as Pathogenic. |
Center for Genomic Medicine, |
RCV000012737 | SCV004804987 | pathogenic | Infantile nephronophthisis | 2024-03-17 | criteria provided, single submitter | research | |
OMIM | RCV000012737 | SCV000032972 | pathogenic | Infantile nephronophthisis | 2003-08-01 | no assertion criteria provided | literature only |