ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86526T>G (p.Val28842=) (rs72648226)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040724 SCV000064415 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Val26274Val in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (4/6694) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs72648226). Val26274Val in exon 275 of TTN (rs72648226; allele frequency = 0.1%, 4/6694) **
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724569 SCV000228574 uncertain significance not provided 2017-12-19 criteria provided, single submitter clinical testing
Invitae RCV000724569 SCV000555057 likely benign not provided 2018-12-24 criteria provided, single submitter clinical testing
GeneDx RCV000724569 SCV000979649 likely benign not provided 2018-04-19 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.

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