ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.1870_1872del (p.Phe624del)

dbSNP: rs1302171532
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.