ClinVar Miner

Submissions for variant NM_182920.2(ADAMTS9):c.5191T>C (p.Tyr1731His)

gnomAD frequency: 0.00031  dbSNP: rs140793506
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002104884 SCV002387042 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045811 SCV004059773 uncertain significance not specified 2023-09-12 criteria provided, single submitter clinical testing The c.5191T>C (p.Y1731H) alteration is located in exon 33 (coding exon 33) of the ADAMTS9 gene. This alteration results from a T to C substitution at nucleotide position 5191, causing the tyrosine (Y) at amino acid position 1731 to be replaced by a histidine (H). 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.