ClinVar Miner

Submissions for variant NM_012179.3(FBXO7):c.[274G>C];[520T>A]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000504379 SCV000590909 uncertain significance Parkinson disease 15 2017-08-07 no assertion criteria provided clinical testing The variant c.274G>C(p.Asp92His) has not been reported in the 1000 Genomes database and has minor allele frequency of 0.03% in ExAC database. The in silico prediction of the variant is damaging by Mutation Taster. The variant c.520T>A(p.Ser174Thr) has not been reported in 1000 Genomes and ExAC databases. The in silico predictions of the variant is benign by PolyPhen2, SIFT, LRT and MutationTaster2.

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