Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153989 | SCV000203614 | uncertain significance | not provided | 2014-03-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002514963 | SCV003296196 | likely benign | Anophthalmia/microphthalmia-esophageal atresia syndrome | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Yale Center for Mendelian Genomics, |
RCV001849322 | SCV002106762 | uncertain significance | Amenorrhea | 2021-03-08 | no assertion criteria provided | literature only |