ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) (rs140781259)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570280 SCV000673311 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000120979 SCV000149266 likely benign not specified 2017-12-18 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.
ITMI RCV000120979 SCV000085147 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000200372 SCV000481134 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000200372 SCV000252622 benign Fanconi anemia 2018-01-03 criteria provided, single submitter clinical testing
Mendelics RCV000709090 SCV000838353 likely benign Fanconi anemia, complementation group C 2018-07-02 criteria provided, single submitter clinical testing

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