Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000891458 | SCV001035277 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV001195202 | SCV001365508 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Pro1443_Gly1444insProPro in exon 32 of PCDH15: This variant is not expected to have clinical significance because it has been identified in 0.74% (63/8554) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs559130985). |
Gene |
RCV000891458 | SCV001813248 | likely benign | not provided | 2022-01-25 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31178897, 34426522) |
Fulgent Genetics, |
RCV002493398 | SCV002804146 | likely benign | Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F | 2022-04-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955499 | SCV004783143 | benign | PCDH15-related condition | 2019-09-19 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Biochemistry Laboratory of CDMU, |
RCV000768426 | SCV000899181 | likely pathogenic | Usher syndrome type 1F | no assertion criteria provided | case-control | ||
Natera, |
RCV000768426 | SCV002092266 | likely benign | Usher syndrome type 1F | 2019-09-26 | no assertion criteria provided | clinical testing |