Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000513994 | SCV000610514 | benign | not provided | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000513994 | SCV001095339 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Broad Institute Rare Disease Group, |
RCV001258233 | SCV001435139 | benign | Autism | criteria provided, single submitter | research | The homozygous p.Arg1165Cys variant, sometimes called p.Arg125Cys due to a difference in cDNA numbering, in CLTCL1 has been identified in 2 siblings from 1 family with autism (PMID: 22511880), and has been identified in >4% of Latino chromosomes and 6 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autism. |