ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7185C>T (p.Ser2395=)

gnomAD frequency: 0.00090  dbSNP: rs199880128
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526014 SCV000651154 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001558061 SCV001779934 likely benign not provided 2021-04-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377138 SCV002674921 likely benign Cardiovascular phenotype 2019-04-14 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 RCV002497178 SCV002808860 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2022-03-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001558061 SCV003917568 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV003945287 SCV004765918 likely benign FLNC-related disorder 2019-11-27 criteria provided, single submitter 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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