ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) (rs121917710)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174664 SCV000226003 benign not specified 2014-11-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267521 SCV000469197 likely benign Pallister-Hall syndrome 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.
Illumina Clinical Services Laboratory,Illumina RCV000320330 SCV000469198 likely benign Greig cephalopolysyndactyly syndrome 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.
Illumina Clinical Services Laboratory,Illumina RCV000358789 SCV000469199 likely benign Polydactyly 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000174664 SCV000513160 likely benign not specified 2017-05-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514884 SCV000609533 benign not provided 2017-04-12 criteria provided, single submitter clinical testing
Invitae RCV001084662 SCV000630785 benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662017 SCV000784349 likely pathogenic Postaxial polydactyly type A1 2018-03-05 criteria provided, single submitter clinical testing
OMIM RCV000014832 SCV000035087 uncertain significance Postaxial polydactyly, type A1/B 1999-09-01 no assertion criteria provided literature only

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.