Submissions for variant NM_000168.6(GLI3):c.4005G>A (p.Pro1335=)

gnomAD frequency: 0.00076  dbSNP: rs149860242

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000295772	SCV000469126	benign	Greig cephalopolysyndactyly syndrome	2018-01-12	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	RCV000350655	SCV000469127	benign	Polydactyly	2018-01-12	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	RCV000393604	SCV000469128	benign	Pallister-Hall syndrome	2018-01-12	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	RCV001705530	SCV000513163	likely benign	not provided	2021-01-19	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000444747	SCV000706242	likely benign	not specified	2017-03-29	criteria provided, single submitter	clinical testing
Invitae	RCV000877587	SCV001020337	benign	Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome	2023-12-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000444747	SCV002069888	likely benign	not specified	2018-11-14	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002504179	SCV002807430	benign	Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1	2021-08-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705530	SCV004156792	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	GLI3: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003957846	SCV004769489	likely benign	GLI3-related condition	2019-08-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).