ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.1305T>G (p.Ile435Met)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003463542 SCV004206799 uncertain significance Palmoplantar keratoderma-esophageal carcinoma syndrome 2023-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004661664 SCV005162086 uncertain significance Inborn genetic diseases 2024-05-03 criteria provided, single submitter clinical testing The c.1392T>G (p.I464M) alteration is located in exon 12 (coding exon 10) of the RHBDF2 gene. This alteration results from a T to G substitution at nucleotide position 1392, causing the isoleucine (I) at amino acid position 464 to be replaced by a methionine (M). 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.