ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) (rs191692293)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039910 SCV000203740 likely benign not specified 2014-04-09 criteria provided, single submitter clinical testing
GeneDx RCV000039910 SCV000238255 likely benign not specified 2017-09-05 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 RCV000464902 SCV000555671 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039910 SCV000063601 likely benign not specified 2015-04-01 criteria provided, single submitter clinical testing p.Cys4976Ser in exon 61 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (52/9760) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs191692293).

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