Submissions for variant NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn)

gnomAD frequency: 0.66550  dbSNP: rs12711538

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081285	SCV000113193	benign	not specified	2013-05-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081285	SCV000310980	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000340352	SCV000416223	benign	Holoprosencephaly 9	2018-01-13	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705753	SCV000603841	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001705753	SCV001904097	benign	not provided	2018-11-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701659	SCV001933827	benign	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000340352	SCV001933828	benign	Holoprosencephaly 9	2021-08-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055196	SCV002388821	benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001705753	SCV005244620	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000081285	SCV001918783	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000081285	SCV001963395	benign	not specified		no assertion criteria provided	clinical testing