ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22692A>T (p.Thr7564=) (rs187182557)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039974 SCV000063665 benign not specified 2015-04-28 criteria provided, single submitter clinical testing p.Thr6320Thr in exon 75 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (38/9800) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs187182557).
GeneDx RCV000039974 SCV000238322 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 RCV000476003 SCV000555334 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000039974 SCV000616025 benign not specified 2017-05-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000039974 SCV000700706 likely benign not specified 2017-01-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287011 SCV001473649 benign none provided 2019-11-11 criteria provided, single submitter clinical testing

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