ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3621C>T (p.Asn1207=)

gnomAD frequency: 0.00063  dbSNP: rs117864464
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698337 SCV000535244 benign not provided 2018-03-22 criteria provided, single submitter clinical testing
Invitae RCV000544773 SCV000650992 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
Ambry Genetics RCV002451049 SCV002616328 benign Cardiovascular phenotype 2019-01-28 criteria provided, single submitter clinical testing This alteration is classified as 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000421795 SCV004222925 benign not specified 2023-11-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486843 SCV004240641 benign Cardiomyopathy 2022-11-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003899896 SCV004708793 benign FLNC-related disorder 2019-04-08 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000421795 SCV001924332 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000421795 SCV001929357 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000421795 SCV001973852 benign not specified no assertion criteria provided clinical testing

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