ClinVar Miner

Submissions for variant NM_001195518.2(MICU1):c.156G>A (p.Trp52Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797251 SCV005415705 likely pathogenic Proximal myopathy with extrapyramidal signs criteria provided, single submitter clinical testing PVS1+PM2_Supporting

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