Submissions for variant NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe)

gnomAD frequency: 0.00465  dbSNP: rs146207623

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174550	SCV000225868	benign	not specified	2014-07-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000354924	SCV000416235	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000438850	SCV000510935	benign	not provided	2016-10-13	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000438850	SCV000883947	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV001086172	SCV001107075	benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2019-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000438850	SCV001898776	benign	not provided	2019-08-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29891883, 24744436)
CeGaT Center for Human Genetics Tuebingen	RCV000438850	SCV004149123	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	GLI2: BP4, BS1, BS2