ClinVar Miner

Submissions for variant NM_004447.6(EPS8):c.104A>G (p.His35Arg)

gnomAD frequency: 0.00631  dbSNP: rs71532816
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
GeneDx RCV000894052 SCV000718102 benign not provided 2019-05-02 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000609621 SCV000858230 benign not specified 2017-11-30 criteria provided, single submitter clinical testing
Invitae RCV000894052 SCV001038017 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506459 SCV002807178 likely benign Autosomal recessive nonsyndromic hearing loss 102 2021-08-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000894052 SCV004042541 benign not provided 2023-10-01 criteria provided, single submitter clinical testing EPS8: BP4, BS1, BS2
GenomeConnect, ClinGen RCV000844977 SCV000986803 not provided Hearing loss, autosomal recessive 106 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 03/06/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.