Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000256431 | SCV000322765 | likely pathogenic | Meckel-Gruber syndrome | no assertion criteria provided | research | Loss of function, autozygosity mapping, segregation, gene independently mutated in three families with Meckel-Gruber syndrome, experimental evidence linking TXNDC15 to ciliogenesis | |
OMIM | RCV002248498 | SCV002520573 | pathogenic | Meckel syndrome 14 | 2022-05-13 | no assertion criteria provided | literature only |