ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln)

dbSNP: rs545841352
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862128 SCV001002583 benign Familial aplasia of the vermis 2024-01-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001155544 SCV001316979 uncertain significance Joubert syndrome 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV002225753 SCV002504462 likely benign not provided 2019-06-14 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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.