ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6208+17dup

gnomAD frequency: 0.00001  dbSNP: rs1159094051
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002164730 SCV002333386 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2021-08-21 criteria provided, single submitter clinical testing

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