ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.5942T>C (p.Phe1981Ser)

gnomAD frequency: 0.00003  dbSNP: rs1005361609
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
Ambry Genetics RCV004987019 SCV005611828 uncertain significance Inborn genetic diseases 2024-07-14 criteria provided, single submitter clinical testing The c.5756T>C (p.F1919S) alteration is located in exon 37 (coding exon 37) of the LOXHD1 gene. This alteration results from a T to C substitution at nucleotide position 5756, causing the phenylalanine (F) at amino acid position 1919 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001280498 SCV001467682 uncertain significance Autosomal recessive nonsyndromic hearing loss 77 2020-06-25 no assertion criteria provided 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.