Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Service de Biochimie Médicale et Biologie Moléculaire, |
RCV001172433 | SCV001335492 | 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 |
Center of Genomic medicine, |
RCV001172433 | SCV004098987 | likely pathogenic | Fraser syndrome 1 | 2023-09-28 | criteria provided, single submitter | clinical testing | This variant is present in compound heterozygosity with another variant in the same gene in a patient with polymalformative syndrome including microtia, deafness, facial asymetry, syndactyly and brachydactyly. |