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

gnomAD frequency: 0.00511  dbSNP: rs121917710

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174664	SCV000226003	benign	not specified	2014-11-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, 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 Laboratory Services, 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 Laboratory Services, Illumina	RCV000358789	SCV000469199	likely benign	Polydactyly	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000514884	SCV000513160	benign	not provided	2018-12-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 10441570, 25527561, 31325247, 32696176)
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	2024-01-22	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV003458333	SCV000784349	benign	Postaxial polydactyly	2023-12-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000174664	SCV002069890	benign	not specified	2018-02-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514884	SCV002563946	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	GLI3: BS1, BS2
OMIM	RCV000014832	SCV000035087	uncertain significance	Postaxial polydactyly, type A1/B	1999-09-01	flagged submission	literature only