Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000622818 | SCV000742844 | pathogenic | Inborn genetic diseases | 2017-08-07 | criteria provided, single submitter | clinical testing | |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV002510579 | SCV002820133 | pathogenic | KBG syndrome | criteria provided, single submitter | clinical testing | This variant has been reported to the ClinVar database as Pathogenic but no details are available for independent assessment. The nucleotide change in ANKRD11 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. Loss of function variants have been previously reported to be disease causing. Hence the above variant has been classified as Pathogenic. |