ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) (rs142794598)

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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 RCV000172693 SCV000055056 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154985 SCV000204667 likely benign not specified 2015-04-24 criteria provided, single submitter clinical testing p.Ile5633Thr in exon 68 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (37/9774) of African chromosom es by the Exome Aggregation Consortium (ExAC,; db SNP rs142794598).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154985 SCV000231970 likely benign not specified 2017-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000154985 SCV000238284 likely benign not specified 2018-02-05 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 RCV000172693 SCV000555280 likely benign not provided 2019-02-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000172693 SCV000616019 likely benign not provided 2018-03-23 criteria provided, single submitter clinical testing

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