Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV002248499 | SCV004801223 | pathogenic | Meckel syndrome 14 | 2024-03-14 | criteria provided, single submitter | research | |
Department Of Translational Genomics |
RCV000256449 | SCV000322766 | likely pathogenic | Meckel-Gruber syndrome | no assertion criteria provided | research | Loss of function, autozygosity mapping, gene independently mutated in three families with Meckel-Gruber syndrome, experimental evidence linking TXNDC15 to ciliogenesis | |
OMIM | RCV002248499 | SCV002520574 | pathogenic | Meckel syndrome 14 | 2022-05-13 | no assertion criteria provided | literature only |