Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000455912 | SCV000538739 | benign | not specified | 2016-03-29 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant has been reported in 4/4 individuals (1 family ) affected with AD pulvurent congenital cataract and was absent from 10 healthy relatives and 230 ethnically matched healthy controls (Gonzalez-Huerta_2013). It has also been reported in 4/30 cases og congenital cataract (Kumar_2011). The exact prevalence of congenital cataract is unknown but estimated around 1-6/10,000 children. The frequency of the variant in South Asians in 5.3%. |
Broad Center for Mendelian Genomics, |
RCV001258282 | SCV001435207 | benign | Usher syndrome type 2C | criteria provided, single submitter | research | The heterozygous p.Arg48His variant in CRYGC has been identified in 4 individuals with cataracts in the literature (PMID: 21423869). However, this variant is classified as benign for autosomal dominant cataracts because it has been identified in >5% of South Asian chromosomes by ExAC (http://gnomad.broadinstitute.org/). | |
Invitae | RCV001523398 | SCV001733094 | benign | Nuclear pulverulent cataract | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001724007 | SCV001950469 | benign | not provided | 2018-09-22 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23954869, 21423869, 27884173, 27535533, 29386872) |