Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665758 | SCV000789926 | uncertain significance | Metaphyseal chondrodysplasia, McKusick type | 2017-10-09 | criteria provided, single submitter | clinical testing | |
OMIM | RCV002285169 | SCV002574781 | pathogenic | Metaphyseal dysplasia without hypotrichosis | 2022-09-21 | no assertion criteria provided | literature only |