ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96998G>A (p.Arg32333His) (rs138846756)

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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 RCV000040846 SCV000064537 likely benign not specified 2012-04-18 criteria provided, single submitter clinical testing Arg29765His in Exon 297 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (17/3292) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //; dbSNP rs138846756). Arg29765His in Exon 297 of TTN (allele frequency = 0.5%, 17/3292; dbSNP rs138846756) **
GeneDx RCV000040846 SCV000237825 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.
Ambry Genetics RCV000247847 SCV000319159 likely benign Cardiovascular phenotype 2018-07-05 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040846 SCV000332163 likely benign not specified 2015-06-11 criteria provided, single submitter clinical testing
Invitae RCV000461503 SCV000555180 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing

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