ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6639C>T (p.Val2213=)

gnomAD frequency: 0.00005  dbSNP: rs747628268
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649236 SCV000771061 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360630 SCV002663210 likely benign Cardiovascular phenotype 2019-08-30 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 RCV003457731 SCV004185492 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7

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