Submissions for variant NM_001374353.1(GLI2):c.2967C>T (p.Gly989=)

gnomAD frequency: 0.00285  dbSNP: rs373880077

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174548	SCV000225866	benign	not specified	2015-02-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000396778	SCV000416210	likely benign	Holoprosencephaly 9	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000871933	SCV001013672	benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2023-12-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001539228	SCV001756973	benign	not provided	2021-04-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21204792)
CeGaT Center for Human Genetics Tuebingen	RCV001539228	SCV004149113	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	GLI2: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003937565	SCV004748116	benign	GLI2-related disorder	2019-05-24	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics	RCV001539228	SCV005262750	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001539228	SCV001918773	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001539228	SCV001964821	likely benign	not provided		no assertion criteria provided	clinical testing