ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) (rs572671060)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156142 SCV000205856 likely benign not specified 2013-11-09 criteria provided, single submitter clinical testing Gly7Arg in Exon 1 of DFNB31: This variant is not expected to have clinical signi ficance because the glycine (Gly) residue at position 7 is not conserved in seve ral species with wallaby, opossum, and platypus having an arginine (Arg) at that position.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282729 SCV001156910 uncertain significance none provided 2020-06-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001168958 SCV001331603 uncertain significance Deafness, autosomal recessive 31 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001168959 SCV001331604 uncertain significance Usher syndrome, type 2D 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001422011 SCV001624545 likely benign not provided 2020-11-24 criteria provided, single submitter 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.