ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1220G>T (p.Cys407Phe) (rs1555938741)

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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 RCV000656229 SCV000747741 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2z 2018-03-20 no assertion criteria provided clinical testing The observed variant c.1034G>T (p.C345F) is not reported in 1000 Genomes and ExAc database. The in silico prediction of the variant is disease causing by MutationTaster2, damaging by SIFT, and possibly damaging by PolyPhen2.

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