ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.597A>G (p.Val199=) (rs144214844)

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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 RCV000040522 SCV000064213 likely benign not specified 2012-04-11 criteria provided, single submitter clinical testing Val199Val in exon 5 of TTN: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/3738 African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS/; dbSNP rs144214844). Val199Val in exon 5 of TTN (rs144214844; allele frequency = 1/3738) **
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727055 SCV000705246 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000727055 SCV000719396 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing
Invitae RCV001087951 SCV001081869 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-14 criteria provided, single submitter clinical testing

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