ClinVar Miner

Submissions for variant NM_002775.5(HTRA1):c.753C>T (p.Ile251=)

gnomAD frequency: 0.04155  dbSNP: rs17624021
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000291036 SCV000361219 benign Macular degeneration 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000086954 SCV000841344 benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Invitae RCV000086954 SCV001726354 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000086954 SCV001948229 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV000086954 SCV000119206 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001795157 SCV002035250 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000086954 SCV002035605 likely benign not provided 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.