Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Service de Biochimie Médicale et Biologie Moléculaire, |
RCV001172427 | SCV001335486 | pathogenic | Fraser syndrome 1 | 2018-09-14 | criteria provided, single submitter | clinical testing | This variant in homozygous state or compound heterozygous state induced Fraser syndrome phenotype |
OMIM | RCV001172427 | SCV000023103 | pathogenic | Fraser syndrome 1 | 2003-06-01 | no assertion criteria provided | literature only |