Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041439 | SCV000065134 | benign | not specified | 2016-02-18 | criteria provided, single submitter | clinical testing | p.Ser3Arg in exon 1 of CLRN1: This variant is not expected to have clinical sign ificance because it has been identified in 0.8% (73/8624) of East Asian chromoso mes Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP s1 87218889). |
Eurofins Ntd Llc |
RCV000726773 | SCV000702941 | uncertain significance | not provided | 2016-12-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726773 | SCV000969870 | likely benign | not provided | 2019-11-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000726773 | SCV001043263 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Dept Of Ophthalmology, |
RCV003887880 | SCV004705698 | uncertain significance | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Natera, |
RCV001272456 | SCV001454446 | likely benign | Usher syndrome type 3A | 2019-12-13 | no assertion criteria provided | clinical testing |