Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000195239 | SCV000246656 | pathogenic | Menkes kinky-hair syndrome | 2013-02-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000012549 | SCV000032783 | pathogenic | Cutis laxa, X-linked | 1997-07-01 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium Ii, |
RCV000195239 | SCV004011990 | uncertain significance | Menkes kinky-hair syndrome | 2016-01-06 | no assertion criteria provided | literature only |