Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155907 | SCV000205618 | likely benign | not specified | 2013-08-15 | criteria provided, single submitter | clinical testing | Asn5182Asn in Exon 72 of USH2A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and it is not locate d within the splice consensus sequence. |
Eurofins Ntd Llc |
RCV000155907 | SCV000337204 | likely benign | not specified | 2015-11-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000933774 | SCV001079483 | benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000933774 | SCV001905129 | benign | not provided | 2018-11-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453183 | SCV004182586 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453182 | SCV004182597 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |