Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000623459 | SCV000741473 | uncertain significance | Inborn genetic diseases | 2016-04-25 | criteria provided, single submitter | clinical testing | |
Clinical Genetics Karolinska University Hospital, |
RCV001269614 | SCV001449719 | pathogenic | not provided | 2018-03-28 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000017758 | SCV000038036 | pathogenic | Hypochondroplasia | 2003-05-15 | no assertion criteria provided | literature only | |
Gene |
RCV000017758 | SCV000087166 | pathologic | Hypochondroplasia | 2013-09-26 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |