Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003144107 | SCV003830641 | uncertain significance | not provided | 2021-08-20 | criteria provided, single submitter | clinical testing | |
Genomic Medicine Center of Excellence, |
RCV000020005 | SCV005438538 | uncertain significance | Autosomal recessive multiple pterygium syndrome | 2024-12-18 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000020005 | SCV000040303 | pathogenic | Autosomal recessive multiple pterygium syndrome | 2006-08-01 | no assertion criteria provided | literature only |