Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UW Hindbrain Malformation Research Program, |
RCV000201590 | SCV000256509 | pathogenic | Joubert syndrome 6 | 2015-02-23 | criteria provided, single submitter | research | |
Preventiongenetics, |
RCV003401089 | SCV004112423 | likely pathogenic | TMEM67-related condition | 2023-02-14 | criteria provided, single submitter | clinical testing | The TMEM67 c.1073C>T variant is predicted to result in the amino acid substitution p.Pro358Leu. This variant has been reported in the compound heterozygous state in three individuals from the same pedigree with COACH syndrome (Doherty et al. 2010. PubMed ID: 19574260; Table S5 in Bachmann-Gagescu et al. 2015. PubMed ID: 26092869). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Given the evidence, we interpret c.1073C>T (p.Pro358Leu) as likely pathogenic. |
OMIM | RCV000201590 | SCV000045084 | pathogenic | Joubert syndrome 6 | 2011-07-01 | no assertion criteria provided | literature only |