Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000515063 | SCV000609751 | likely benign | not provided | 2017-04-11 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000603188 | SCV000711719 | benign | not specified | 2016-11-19 | criteria provided, single submitter | clinical testing | c.4127+8C>T in intron 20 of STRC: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and it has been identified in 1.2% (117/9752) of African chromosomes by the Exome A ggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2470137). |
Gene |
RCV000515063 | SCV001776557 | likely benign | not provided | 2019-02-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002467845 | SCV002762999 | benign | Autosomal recessive nonsyndromic hearing loss 16 | criteria provided, single submitter | clinical testing |