ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2008-7C>T

gnomAD frequency: 0.00002  dbSNP: rs767576240
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174509 SCV000225821 uncertain significance not provided 2015-02-05 criteria provided, single submitter clinical testing
Invitae RCV000649255 SCV000771080 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000174509 SCV001816798 likely benign not provided 2020-07-16 criteria provided, single submitter clinical testing

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