Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV002467478 | SCV002762844 | uncertain significance | Leber congenital amaurosis 6 | 2022-12-01 | criteria provided, single submitter | clinical testing | A heterozygous 6 base pair deletion in Exon 15 of the RPGRIP1 gene that results in the in-frame deletion of amino acids (p.Ser601_Leu602del) was detected. This variant has not been reported in the 1000 genomes, gnomAD and our internal databases. The reference codons are conserved across species. In summary, the variant meets our criteria to be classified as variant of uncertain significance. |