ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.934A>G (p.Ile312Val) (rs1800366)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572525 SCV000673306 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000115362 SCV000149271 likely benign not specified 2018-02-06 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 RCV000196771 SCV000254266 likely benign Fanconi anemia 2017-12-18 criteria provided, single submitter clinical testing
Mendelics RCV000709085 SCV000838347 uncertain significance Fanconi anemia, complementation group C 2018-07-02 criteria provided, single submitter clinical testing

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