Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220519 | SCV000271175 | likely benign | not specified | 2015-11-16 | criteria provided, single submitter | clinical testing | p.Asp2255Asp in exon 35 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/66738 of Europ ean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org). |
Invitae | RCV000940807 | SCV001086675 | likely benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003454590 | SCV004181617 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003454589 | SCV004181618 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |