ClinVar Miner

Submissions for variant NM_005461.5(MAFB):c.173C>G (p.Thr58Arg)

dbSNP: rs1600429281
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Beijing Mygenostics Co., Ltd. RCV000845260 SCV000965692 likely pathogenic Carpal osteolysis 2018-12-19 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV002290978 SCV002583331 likely pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy 2021-11-02 no assertion criteria provided clinical testing

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