ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) (rs142259966)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127384 SCV000170947 benign not provided 2012-06-12 criteria provided, single submitter clinical testing The variant is found in ARRP panel(s).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000345398 SCV000337020 benign not specified 2015-12-29 criteria provided, single submitter clinical testing
Invitae RCV000127384 SCV001105432 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000127384 SCV001154558 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001850 SCV001159552 benign Retinitis pigmentosa 43 2018-12-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152527 SCV001313744 uncertain significance Retinitis pigmentosa 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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.