Submissions for variant NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu)

gnomAD frequency: 0.03269  dbSNP: rs4986939

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000121044	SCV000310549	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000342448	SCV000479844	likely benign	Fanconi anemia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000262883	SCV000484371	likely benign	Inclusion Body Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000318068	SCV000484372	likely benign	Amyotrophic Lateral Sclerosis, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000342448	SCV000558824	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001169045	SCV001331690	likely benign	Fanconi anemia complementation group G	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV001573471	SCV001868818	benign	not provided	2019-05-25	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001169045	SCV004017687	benign	Fanconi anemia complementation group G	2023-07-07	criteria provided, single submitter	clinical testing
ITMI	RCV000121044	SCV000085212	not provided	not specified	2013-09-19	no assertion provided	reference population
Natera, Inc.	RCV001169045	SCV001452301	benign	Fanconi anemia complementation group G	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573471	SCV001799395	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000121044	SCV001807730	benign	not specified		no assertion criteria provided	clinical testing