ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7434C>T (p.Ile2478=)

gnomAD frequency: 0.00008  dbSNP: rs773767211
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000963588 SCV001110756 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505453 SCV002807489 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-08-26 criteria provided, single submitter clinical testing

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