ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7256C>T (p.Thr2419Met)

gnomAD frequency: 0.00004  dbSNP: rs199768217
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000884086 SCV001027441 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-15 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199262 SCV001370325 uncertain significance Hypertrophic cardiomyopathy 26 2019-05-16 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply.
GeneDx RCV001530834 SCV001745737 likely benign not provided 2019-10-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22806379)
Ambry Genetics RCV002372507 SCV002671469 likely benign Cardiovascular phenotype 2019-06-06 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.
Revvity Omics, Revvity RCV001530834 SCV003833214 uncertain significance not provided 2020-09-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486942 SCV004240675 likely benign Cardiomyopathy 2023-04-03 criteria provided, single submitter clinical testing

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