ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)

gnomAD frequency: 0.00034  dbSNP: rs199500256
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000945384 SCV001091389 benign Joubert syndrome 14 2023-12-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000945384 SCV001298866 uncertain significance Joubert syndrome 14 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 RCV001593134 SCV001825519 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing

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.