Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000239010 | SCV000297208 | benign | not specified | 2015-10-16 | criteria provided, single submitter | clinical testing | |
Broad Center for Mendelian Genomics, |
RCV001258281 | SCV001435206 | benign | Usher syndrome type 2C | criteria provided, single submitter | research | The homozygous c.851delC variant in CNKSR1 has been identified in an individual with intellectual disability in the literature (PMID: 21937992). However, this variant is classified as benign for autosomal recessive intellectual disability because it has been identified in >5% of European (non-Finnish) chromosomes and 108 total homozygotes, by ExAC (http://gnomad.broadinstitute.org/). | |
Gene |
RCV001618356 | SCV001842545 | benign | not provided | 2018-12-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30450701, 27535533, 21937992) |