Submissions for variant NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)

gnomAD frequency: 0.00964  dbSNP: rs114814747

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174553	SCV000225871	benign	not specified	2015-02-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000174553	SCV000310985	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000030731	SCV000416239	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	RCV000548311	SCV000655235	benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001541226	SCV001759199	benign	not provided	2020-07-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29165578, 21204792, 22967285)
CeGaT Center for Human Genetics Tuebingen	RCV001541226	SCV004149125	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	GLI2: BS1, BS2
Molecular Genetics, Royal Melbourne Hospital	RCV003993753	SCV004812727	benign	Partial androgen insensitivity syndrome	2023-05-04	criteria provided, single submitter	clinical testing	European Non-Finnish population allele frequency is 1.398% (rs114814747, 1841/128804 alleles, 11 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.3.2, this variant is classified as BENIGN. Following criteria are met: BA1
Breakthrough Genomics, Breakthrough Genomics	RCV001541226	SCV005262758	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000030731	SCV000053392	pathogenic	Holoprosencephaly 9	2012-01-01	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000030731	SCV000734140	benign	Holoprosencephaly 9		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001541226	SCV001799521	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001541226	SCV001924986	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001541226	SCV001928541	likely benign	not provided		no assertion criteria provided	clinical testing