ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) (rs150682764)

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Total submissions: 6
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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 RCV000172632 SCV000054929 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176834 SCV000228579 likely benign not specified 2015-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000176834 SCV000237589 likely benign not specified 2017-08-17 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000176834 SCV000271083 likely benign not specified 2015-04-13 criteria provided, single submitter clinical testing p.Thr23970Ala in exon 275 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.5% (47/9800) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs150682764).
Invitae RCV000172632 SCV000286846 benign not provided 2019-02-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769938 SCV000901364 likely benign Cardiomyopathy 2017-08-18 criteria provided, single submitter clinical testing

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