ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=)

gnomAD frequency: 0.00775  dbSNP: rs34705415
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039450 SCV000063134 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Tyr337Tyr in Exon 08 of PDZD7: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.8% (53/6688) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs34705415).
Athena Diagnostics RCV000039450 SCV001476732 benign not specified 2020-07-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518729 SCV001727482 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001518729 SCV001869833 benign not provided 2018-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490540 SCV002798040 benign Usher syndrome type 2C; Usher syndrome type 2A; Hearing loss, autosomal recessive 57 2021-10-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001518729 SCV005320088 benign not provided criteria provided, single submitter not provided

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.