Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001095755 | SCV001251598 | uncertain significance | Bardet-Biedl syndrome 9 | 2020-01-22 | criteria provided, single submitter | clinical testing | The BBS9 c.1870_1872delTTT (p.Phe624del) variant is an inframe deletion variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not reported in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Phe624del variant is classified as a variant of unknown significance for Bardet-Biedl syndrome. |