Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194377 | SCV000246721 | pathogenic | Menkes kinky-hair syndrome | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003238723 | SCV003936448 | pathogenic | not provided | 2023-06-30 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect; N1304S resulted in a significant decrease in copper-transporting capacity with approximately 33% residual copper transport activity compared to wild-type (Tang et al., 2006; Vonk et al., 2012); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21667063, 18256395, 17108763, 28451781) |
OMIM | RCV000012559 | SCV000032793 | pathogenic | Cutis laxa, X-linked | 2006-11-01 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium Ii, |
RCV000012559 | SCV004011838 | uncertain significance | Cutis laxa, X-linked | 2016-01-06 | no assertion criteria provided | literature only |