ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2040C>T (p.Thr680=)

gnomAD frequency: 0.00008  dbSNP: rs368121231
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174510 SCV000225822 uncertain significance not provided 2014-07-21 criteria provided, single submitter clinical testing
Invitae RCV001082930 SCV001019665 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415742 SCV002723045 likely benign Cardiovascular phenotype 2019-05-30 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 RCV000174510 SCV004161029 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7

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