ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6004+11G>A

gnomAD frequency: 0.00719  dbSNP: rs117653869
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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 RCV000250292 SCV000307969 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000250292 SCV000522879 benign not specified 2016-03-02 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.
Invitae RCV002058058 SCV002494002 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
CeGaT Center for Human Genetics Tuebingen RCV001795444 SCV003917564 benign not provided 2023-12-01 criteria provided, single submitter clinical testing FLNC: BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000250292 SCV003929242 benign not specified 2023-04-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001795444 SCV004564751 benign not provided 2023-10-14 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000250292 SCV001921703 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000250292 SCV001930540 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795444 SCV002036539 likely benign not provided no assertion criteria provided clinical testing

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