ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6309C>T (p.Thr2103=)

gnomAD frequency: 0.00116  dbSNP: rs376992044
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177935 SCV000229897 likely benign not specified 2015-04-09 criteria provided, single submitter clinical testing
Invitae RCV000541382 SCV000651115 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
GeneDx RCV001573292 SCV000716209 benign not provided 2020-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362909 SCV002657247 likely benign Cardiovascular phenotype 2019-02-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002503687 SCV002811903 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-07-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573292 SCV004042319 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7, BS1
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486732 SCV004240670 benign Cardiomyopathy 2023-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000177935 SCV004241480 benign not specified 2023-12-03 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573292 SCV001798941 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000177935 SCV001926114 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000177935 SCV001927594 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000177935 SCV001951397 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573292 SCV001967545 likely benign not provided no assertion criteria provided clinical testing

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