ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65776G>A (p.Val21926Met) (rs145527033)

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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 RCV000223513 SCV000332111 likely benign not specified 2015-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000223513 SCV000237434 likely benign not specified 2018-01-12 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 RCV000541875 SCV000643535 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000223513 SCV000271061 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Val19358Met in Exon 262 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.3% (11/3270) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs145527033).

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