Submissions for variant NM_001374353.1(GLI2):c.1893C>T (p.Thr631=)

gnomAD frequency: 0.02306  dbSNP: rs13008360

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247310	SCV000310967	benign	not specified	2016-03-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000269999	SCV000416196	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	RCV001683052	SCV000603844	benign	not provided	2023-09-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001510939	SCV001718098	benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001683052	SCV001898703	benign	not provided	2019-08-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001683052	SCV005242691	benign	not provided		criteria provided, single submitter	not provided