Submissions for variant NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)

gnomAD frequency: 0.02968  dbSNP: rs2237857

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000302780	SCV000479846	likely benign	Fanconi anemia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000377286	SCV000484373	likely benign	Amyotrophic Lateral Sclerosis, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000282744	SCV000484374	likely benign	Inclusion Body Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000302780	SCV000558821	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000121041	SCV000603582	benign	not specified	2017-04-04	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514324	SCV000610984	benign	not provided	2017-03-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001166139	SCV001328479	benign	Fanconi anemia complementation group G	2018-03-06	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.
GeneDx	RCV000514324	SCV001869681	benign	not provided	2019-04-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 11093276, 27153395, 27884173, 11438206, 24728327, 20981092, 17010390)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000121041	SCV002050955	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000302780	SCV002537560	benign	Fanconi anemia	2020-02-04	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001166139	SCV004017689	benign	Fanconi anemia complementation group G	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000514324	SCV005226362	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000121041	SCV000085209	not provided	not specified	2013-09-19	no assertion provided	reference population
PreventionGenetics, part of Exact Sciences	RCV003891644	SCV000310556	benign	FANCG-related disorder	2019-03-01	no assertion criteria provided	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).
Leiden Open Variation Database	RCV001166139	SCV001364822	pathogenic	Fanconi anemia complementation group G	2011-02-07	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
Natera, Inc.	RCV001166139	SCV001452305	benign	Fanconi anemia complementation group G	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000121041	SCV002033996	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000121041	SCV002035276	benign	not specified		no assertion criteria provided	clinical testing