Submissions for variant NM_000136.3(FANCC):c.584A>T (p.Asp195Val) (rs1800365)

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000120978	SCV000168402	benign	not specified	2013-10-17	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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000120978	SCV000232007	benign	not specified	2015-08-24	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia	RCV000120978	SCV000257632	uncertain significance	not specified	2015-07-01	criteria provided, single submitter	clinical testing
Invitae	RCV001083500	SCV000261219	benign	Fanconi anemia	2019-12-31	criteria provided, single submitter	clinical testing
Vantari Genetics	RCV000124962	SCV000267037	benign	Hereditary cancer-predisposing syndrome	2015-12-03	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000179716	SCV000281279	likely benign	not provided	2015-08-26	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
PreventionGenetics,PreventionGenetics	RCV000120978	SCV000302521	likely benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000120978	SCV000539136	likely benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 proband of European ancestry in homozygous state (Verlander 1994). Classified as Benign in ClinVar by GeneDx. MAF 0.4%.
Genetic Services Laboratory,University of Chicago	RCV000120978	SCV000594678	likely benign	not specified	2015-09-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000124962	SCV000673285	benign	Hereditary cancer-predisposing syndrome	2018-09-21	criteria provided, single submitter	clinical testing	Intact protein function observed by in vitro/ex vivo assays;Sub-population frequency in support of benign classification (not ava blue, manual h-w);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Subpopulation frequency in support of benign classification;Intact protein function observed in appropriate functional assay(s);Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Counsyl	RCV000667368	SCV000791802	likely benign	Fanconi anemia, complementation group C	2017-05-25	criteria provided, single submitter	clinical testing
Mendelics	RCV000667368	SCV000838354	likely benign	Fanconi anemia, complementation group C	2018-07-02	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000179716	SCV000892896	uncertain significance	not provided	2018-06-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000988215	SCV001137852	likely benign	Fanconi anemia, complementation group A	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000667368	SCV001329919	likely benign	Fanconi anemia, complementation group C	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ITMI	RCV000120978	SCV000085146	not provided	not specified	2013-09-19	no assertion provided	reference population
Leiden Open Variation Database	RCV000179716	SCV001365302	uncertain significance	not provided	2020-02-28	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.