ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.4039A>G (p.Thr1347Ala)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002771144 SCV003032974 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV002771144 SCV004025694 uncertain significance not provided 2023-02-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV002771144 SCV004127653 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing ERCC6: BP4
Ambry Genetics RCV004064808 SCV004865281 uncertain significance Inborn genetic diseases 2023-11-09 criteria provided, single submitter clinical testing The c.4039A>G (p.T1347A) alteration is located in exon 20 (coding exon 19) of the ERCC6 gene. This alteration results from a A to G substitution at nucleotide position 4039, causing the threonine (T) at amino acid position 1347 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.