ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7990G>C (p.Gly2664Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV003330144 SCV004037139 uncertain significance Distal myopathy with posterior leg and anterior hand involvement criteria provided, single submitter not provided

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