ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5669-12C>T

gnomAD frequency: 0.02786  dbSNP: rs79790270
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245106 SCV000307965 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000245106 SCV000522872 benign not specified 2016-01-13 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000245106 SCV000711505 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 5669-12C>T in intron 34 of FLNC: This variant is not expected to have clinical s ignificance because it has been identified in 3.5% (300/8532) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs79790270).
Invitae RCV002058057 SCV002406098 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000245106 SCV004029320 benign not specified 2023-07-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000245106 SCV001920081 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000245106 SCV001928484 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000245106 SCV001956058 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795443 SCV002036022 likely benign not provided no assertion criteria provided clinical testing

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