Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000735820 | SCV000855175 | pathogenic | Joubert syndrome 33 | no assertion criteria provided | research | The variant is observed as compound heterozygous along with the variant at Chr13:73482688 in the PIBF1 gene. | |
OMIM | RCV000735820 | SCV001438710 | pathogenic | Joubert syndrome 33 | 2020-10-26 | no assertion criteria provided | literature only |