Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Human Genetics and Genomic Medicine, |
RCV002463985 | SCV002758015 | uncertain significance | Vitelliform macular dystrophy 5 | 2022-10-24 | criteria provided, single submitter | clinical testing | The detected variant has not yet been reported in the databases dbSNP151 and gnomAD or the literature. Bioinformatic prediction programmes for splice variants predict a loss of the canonical acceptor splice site c.86 of exon 2 (MaxENT -91.8%, SSF -100%). Based on current knowledge, the variant is to be classified as a "variant of unknown clinical significance" (ACMG criteria). |