ClinVar Miner

Submissions for variant NM_006314.3(CNKSR1):c.851del (p.Pro284fs) (rs781114848)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000239010 SCV000297208 benign not specified 2015-10-16 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute 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/).
GeneDx 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)

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