ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3600C>T (p.Ala1200=)

gnomAD frequency: 0.00001  dbSNP: rs777931249
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649250 SCV000771075 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-07-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150324 SCV003838403 likely benign Cardiomyopathy 2021-09-30 criteria provided, single submitter clinical testing

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