ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4737+9_4737+10del

dbSNP: rs794727437
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176729 SCV000228437 benign not specified 2014-12-17 criteria provided, single submitter clinical testing
Invitae RCV000556391 SCV000651042 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001668338 SCV001887738 benign not provided 2016-07-19 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000176729 SCV001924858 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000176729 SCV001959598 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000176729 SCV001966226 benign not specified no assertion criteria provided clinical testing

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