Submissions for variant NM_000136.3(FANCC):c.522-4A>G

gnomAD frequency: 0.00011  dbSNP: rs371422485

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000160501	SCV000211066	benign	not specified	2014-08-21	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000200491	SCV000253080	likely benign	Fanconi anemia	2023-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000561641	SCV000673324	likely benign	Hereditary cancer-predisposing syndrome	2023-03-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Counsyl	RCV000665085	SCV000789146	uncertain significance	Fanconi anemia complementation group C	2017-01-11	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000200491	SCV002535106	likely benign	Fanconi anemia	2021-06-28	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003965178	SCV004776532	likely benign	FANCC-related disorder	2023-12-26	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).