Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UW Hindbrain Malformation Research Program, |
RCV000201716 | SCV000256499 | pathogenic | Joubert syndrome 6 | 2015-02-23 | criteria provided, single submitter | research | |
Fulgent Genetics, |
RCV002500632 | SCV002813841 | pathogenic | COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 | 2021-12-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003765305 | SCV004569722 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-11-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys100*) in the TMEM67 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM67 are known to be pathogenic (PMID: 20232449, 23559409). This variant is present in population databases (rs751309268, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with TMEM67-related conditions (PMID: 19574260, 26092869). ClinVar contains an entry for this variant (Variation ID: 217712). For these reasons, this variant has been classified as Pathogenic. |