Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214886 | SCV000268855 | benign | not specified | 2016-03-03 | criteria provided, single submitter | clinical testing | c.8120_8121delinsTT (p.Pro2707Leu) in exon 57 of CDH23: This variant is not exp ected to have clinical significance because it has been identified in 1% (86/832 4) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http:// exac.broadinstitute.org; dbSNP rs377535432 and rs373230009). |
Eurofins Ntd Llc |
RCV000214886 | SCV000702104 | benign | not specified | 2016-11-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000941411 | SCV000723796 | benign | not provided | 2019-05-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000941411 | SCV001087297 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002503837 | SCV002807119 | likely benign | Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types | 2021-07-28 | criteria provided, single submitter | clinical testing |