ClinVar Miner

Submissions for variant NM_205836.3(FBXO38):c.1313A>G (p.His438Arg)

dbSNP: rs2113584557
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706834 SCV001934358 uncertain significance Neuronopathy, distal hereditary motor, type 2D 2020-12-04 criteria provided, single submitter clinical testing

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