ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1549+15C>A

gnomAD frequency: 0.00403  dbSNP: rs181134489
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250808 SCV000307928 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000250808 SCV000521448 benign not specified 2016-03-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514366 SCV000609778 benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Invitae RCV002058049 SCV002402729 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000250808 SCV004038068 benign not specified 2023-08-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000514366 SCV004564069 benign not provided 2023-11-11 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000514366 SCV001799907 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000250808 SCV001920352 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000250808 SCV001931592 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000250808 SCV001951305 benign not specified no assertion criteria provided clinical testing

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