Submissions for variant NM_000136.3(FANCC):c.1035T>G (p.Ser345=)

gnomAD frequency: 0.00001  dbSNP: rs1057522277

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000443217	SCV000526942	likely benign	not specified	2016-04-19	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.
Ambry Genetics	RCV001017090	SCV001178116	likely benign	Hereditary cancer-predisposing syndrome	2018-11-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV001426514	SCV001629170	likely benign	Fanconi anemia	2022-06-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897893	SCV004715076	likely benign	FANCC-related condition	2023-05-26	criteria provided, single submitter	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).