ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr)

gnomAD frequency: 0.00053  dbSNP: rs192725607
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246779 SCV000307936 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001702388 SCV000526276 benign not provided 2020-05-04 criteria provided, single submitter clinical testing
Invitae RCV000532267 SCV000650931 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000246779 SCV001879769 benign not specified 2021-02-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418081 SCV002728968 likely benign Cardiovascular phenotype 2019-09-06 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 RCV001702388 SCV004010720 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing FLNC: BS1
Clinical Genetics, Academic Medical Center RCV000246779 SCV001924370 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702388 SCV001932844 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702388 SCV001979678 likely benign not provided no assertion criteria provided clinical testing

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