ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5540-6C>G

gnomAD frequency: 0.00003  dbSNP: rs201335006
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545855 SCV000651081 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150272 SCV003837903 uncertain significance Cardiomyopathy 2022-04-14 criteria provided, single submitter clinical testing

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