ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3791-1G>A

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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 RCV004797402 SCV005416921 likely pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Strong+PS4_Supporting+PP4

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