Submissions for variant NM_004629.2(FANCG):c.1638T>C (p.Gly546=)

gnomAD frequency: 0.00175  dbSNP: rs45537335

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000334548	SCV000479841	uncertain significance	Fanconi anemia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000404884	SCV000484365	likely benign	Amyotrophic Lateral Sclerosis, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000312936	SCV000484366	likely benign	Inclusion Body Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000421683	SCV000523233	likely benign	not specified	2016-02-17	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000334548	SCV000558820	benign	Fanconi anemia	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001168308	SCV001330888	likely benign	Fanconi anemia complementation group G	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV000421683	SCV002072411	likely benign	not specified	2020-03-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000334548	SCV002537533	likely benign	Fanconi anemia	2020-12-16	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV003422375	SCV004157694	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	FANCG: BP4, BP7
Natera, Inc.	RCV001168308	SCV002085274	likely benign	Fanconi anemia complementation group G	2020-01-24	no assertion criteria provided	clinical testing