ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3757G>A (p.Val1253Ile)

gnomAD frequency: 0.00051  dbSNP: rs117366477
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535173 SCV000651000 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
GeneDx RCV001682809 SCV001904122 benign not provided 2018-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345417 SCV002623009 likely benign Cardiovascular phenotype 2019-01-16 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486651 SCV004240644 benign Cardiomyopathy 2023-04-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117071 SCV000151213 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Clinical Genetics, Academic Medical Center RCV000117071 SCV001920627 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000117071 SCV001929237 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000117071 SCV001966568 benign not specified no assertion criteria provided clinical testing

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