Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220367 | SCV000270070 | likely benign | not specified | 2016-10-13 | criteria provided, single submitter | clinical testing | p.Leu76Leu in exon 1 of CLRN1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 24/66702 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs139829306). |
Eurofins Ntd Llc |
RCV000726594 | SCV000345731 | uncertain significance | not provided | 2016-09-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000726594 | SCV001074860 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726594 | SCV001777821 | likely benign | not provided | 2020-09-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001275853 | SCV001461431 | uncertain significance | Usher syndrome type 3 | 2020-01-24 | no assertion criteria provided | clinical testing |