ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys)

gnomAD frequency: 0.00068  dbSNP: rs202223616
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000728440 SCV000621759 likely benign not provided 2021-09-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32112656)
Labcorp Genetics (formerly Invitae), Labcorp RCV001079289 SCV000651136 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728440 SCV000856018 uncertain significance not provided 2017-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367748 SCV002666321 likely benign Cardiovascular phenotype 2019-06-10 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.
CeGaT Center for Human Genetics Tuebingen RCV000728440 SCV003917566 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing FLNC: BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403242 SCV004122303 likely benign not specified 2023-10-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960240 SCV004767760 likely benign FLNC-related disorder 2020-08-31 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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