ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg)

dbSNP: rs193159707
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177456 SCV000229315 benign not specified 2015-05-14 criteria provided, single submitter clinical testing
Invitae RCV000546030 SCV000651055 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001721115 SCV000728451 benign not provided 2020-06-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28356264)
Ambry Genetics RCV002345617 SCV002646334 likely benign Cardiovascular phenotype 2019-02-20 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001721115 SCV004562197 likely benign not provided 2023-10-13 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000177456 SCV001920123 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000177456 SCV001953457 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001721115 SCV001964372 likely benign not provided no assertion criteria provided clinical testing

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