ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) (rs41281202)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120969 SCV000211068 benign not specified 2014-08-15 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 RCV000224016 SCV000253074 benign not provided 2019-02-11 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224016 SCV000281484 uncertain significance not provided 2015-06-04 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Ambry Genetics RCV000566496 SCV000673296 likely benign Hereditary cancer-predisposing syndrome 2018-03-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Mendelics RCV000709083 SCV000838345 likely benign Fanconi anemia, complementation group C 2018-07-02 criteria provided, single submitter clinical testing
ITMI RCV000120969 SCV000085137 not provided not specified 2013-09-19 no assertion provided reference population

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