ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile) (rs201432372)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040024 SCV000063715 likely benign not specified 2015-10-22 criteria provided, single submitter clinical testing p.Thr7164Ile in exon 84 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (27/9550) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs201432372).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040024 SCV000114357 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing
Invitae RCV000463533 SCV000555624 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000040024 SCV000616033 benign not specified 2016-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000040024 SCV000728907 likely benign not specified 2018-01-11 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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