ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6878G>A (p.Arg2293His)

gnomAD frequency: 0.00001  dbSNP: rs1034483511
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553531 SCV000651139 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-05-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483477 SCV002786961 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-07-26 criteria provided, single submitter clinical testing

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