ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met) (rs148551876)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222088 SCV000270975 likely benign not specified 2015-06-04 criteria provided, single submitter clinical testing p.Thr4043Met in exon 51 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (33/9780) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs148551876).
Invitae RCV000560779 SCV000642714 likely benign not provided 2019-01-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000222088 SCV000701150 likely benign not specified 2016-11-09 criteria provided, single submitter clinical testing
GeneDx RCV000222088 SCV000730337 likely benign not specified 2017-12-05 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.

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