ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7251+13G>A

gnomAD frequency: 0.00001  dbSNP: rs367952484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002135628 SCV002456582 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782891 SCV005395526 benign not specified 2024-09-09 criteria provided, single submitter clinical testing

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