ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg)

gnomAD frequency: 0.00016  dbSNP: rs200052398
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172452 SCV000051334 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172452 SCV000238069 likely benign not provided 2021-04-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362, 27321809, 24667040)
Eurofins Ntd Llc (ga) RCV000172452 SCV000336845 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000475682 SCV000542774 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622253 SCV000736673 likely benign Cardiovascular phenotype 2020-05-21 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 RCV001171055 SCV001333724 uncertain significance Cardiomyopathy 2017-11-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000172452 SCV003824815 uncertain significance not provided 2023-07-12 criteria provided, single submitter clinical testing

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