ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96098G>A (p.Arg32033His) (rs200648462)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252794 SCV000319160 uncertain significance Cardiovascular phenotype 2013-11-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040831 SCV000332160 likely benign not specified 2015-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000040831 SCV000237817 likely benign not specified 2017-09-21 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 RCV000463548 SCV000555332 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040831 SCV000064522 likely benign not specified 2012-04-18 criteria provided, single submitter clinical testing Arg29465His in Exon 295 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (14/3210) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS;). Arg29465His in Exon 295 of TTN (allele frequency = 0.4%, 14/3210) **

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