ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) (rs201218828)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248440 SCV000319580 uncertain significance Cardiovascular phenotype 2018-02-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172603 SCV000051290 likely benign not provided 2013-06-24 criteria provided, single submitter research
Blueprint Genetics RCV000157567 SCV000207313 uncertain significance Primary familial hypertrophic cardiomyopathy 2013-11-15 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768824 SCV000900197 benign Cardiomyopathy 2017-03-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154870 SCV000332622 likely benign not specified 2015-07-08 criteria provided, single submitter clinical testing
GeneDx RCV000154870 SCV000237933 likely benign not specified 2018-03-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000466827 SCV000555069 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154870 SCV000204552 benign not specified 2018-06-11 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
PreventionGenetics RCV000154870 SCV000315645 likely benign not specified criteria provided, single submitter clinical testing

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