ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.913G>A (p.Val305Ile)

gnomAD frequency: 0.00140  dbSNP: rs116438342
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180316 SCV000232727 benign not specified 2015-02-02 criteria provided, single submitter clinical testing
Invitae RCV000638107 SCV000759591 likely benign Nephronophthisis 2024-01-18 criteria provided, single submitter clinical testing
Mendelics RCV000988239 SCV001137881 benign Infantile nephronophthisis 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000988239 SCV001329350 likely benign Infantile nephronophthisis 2017-04-27 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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.