ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3891A>G (p.Pro1297=)

gnomAD frequency: 0.06020  dbSNP: rs1056990
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001523491 SCV001733201 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001709720 SCV001936768 benign not provided 2019-02-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001709720 SCV005307019 benign not provided criteria provided, single submitter not provided
GenomeConnect, ClinGen RCV001709720 SCV002074745 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic 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.