Submissions for variant NM_000136.3(FANCC):c.531C>T (p.Pro177=)

gnomAD frequency: 0.00007  dbSNP: rs150070473

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000160502	SCV000211067	benign	not specified	2014-09-15	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	RCV000197251	SCV000253081	likely benign	Fanconi anemia	2023-12-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001023917	SCV001185860	likely benign	Hereditary cancer-predisposing syndrome	2019-02-04	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.
Genetic Services Laboratory, University of Chicago	RCV000160502	SCV002067645	likely benign	not specified	2018-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000197251	SCV002535107	likely benign	Fanconi anemia	2021-09-04	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV003422052	SCV004160164	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	FANCC: BP4, BP7
Natera, Inc.	RCV000197251	SCV002081254	likely benign	Fanconi anemia	2018-09-23	no assertion criteria provided	clinical testing