ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78147A>G (p.Gln26049=) (rs149127072)

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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 RCV000040634 SCV000701410 likely benign not specified 2017-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000040634 SCV000515170 likely benign not specified 2017-11-30 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 RCV000460968 SCV000555515 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040634 SCV000064325 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Gln23481Gln 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% (3/3038) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs149127072). Gln23481Gln in exon 275 of TTN (rs149127072; allele frequency = 0.1%, 3/3038) **

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