Submissions for variant NM_000168.6(GLI3):c.2424A>G (p.Ile808Met)

gnomAD frequency: 0.00194  dbSNP: rs62622373

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224342	SCV000280613	likely benign	not provided	2015-05-19	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina	RCV000365837	SCV000469193	benign	Greig cephalopolysyndactyly syndrome	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000224342	SCV000513161	benign	not provided	2020-02-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19829694, 10441342)
Invitae	RCV001084195	SCV000630790	benign	Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000421865	SCV000700687	benign	not specified	2017-02-07	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000365837	SCV000803566	likely benign	Greig cephalopolysyndactyly syndrome	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Likely Benign, for Greig cephalopolysyndactyly syndrome, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2-Supporting => BS2 downgraded in strength to supporting.
Mendelics	RCV000365837	SCV001137346	likely benign	Greig cephalopolysyndactyly syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001160020	SCV001321783	benign	Polydactyly	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV001160021	SCV001321784	benign	Pallister-Hall syndrome	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV000421865	SCV002069889	benign	not specified	2018-06-20	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002503879	SCV002808589	likely benign	Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1	2022-04-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224342	SCV004156801	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	GLI3: BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000224342	SCV002034098	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224342	SCV002036590	likely benign	not provided		no assertion criteria provided	clinical testing