ClinVar Miner

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

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Total submissions: 17
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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
Division of Genomic Diagnostics,The 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.

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