ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2764C>T (p.Arg922Cys) (rs72647862)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000222512 SCV000237554 likely benign not specified 2017-10-23 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 RCV000222512 SCV000271004 likely benign not specified 2015-01-05 criteria provided, single submitter clinical testing p.Arg922Cys in exon 16 of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 0.5% (48/10580) of African chromosom es by the Exome Aggregation Consortium (ExAC,; db SNP rs72647862).
Ambry Genetics RCV000241772 SCV000320403 likely benign Cardiovascular phenotype 2018-08-08 criteria provided, single submitter clinical testing Other strong data supporting benign classification
Invitae RCV000475691 SCV000555185 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000222512 SCV000855075 likely benign not specified 2017-11-14 criteria provided, single submitter clinical testing

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