Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074039 | SCV001239607 | uncertain significance | Retinal dystrophy | 2018-11-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002554695 | SCV003621254 | uncertain significance | Inborn genetic diseases | 2022-04-22 | criteria provided, single submitter | clinical testing | The c.9998A>G (p.D3333G) alteration is located in exon 51 (coding exon 50) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 9998, causing the aspartic acid (D) at amino acid position 3333 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Genome- |
RCV003455342 | SCV004182611 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003455341 | SCV004182612 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |