ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4456+13C>T

gnomAD frequency: 0.00065  dbSNP: rs200456962
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437588 SCV000523661 likely benign not specified 2017-06-27 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 RCV002062601 SCV002402994 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
Clinical Genetics, Academic Medical Center RCV000437588 SCV002034617 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000437588 SCV002036466 benign not specified no assertion criteria provided clinical testing

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