ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70042G>A (p.Ala23348Thr) (rs775146212)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172268 SCV000054947 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000615591 SCV000729467 likely benign not specified 2018-02-09 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 RCV001087343 SCV001009739 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-05-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172268 SCV001502357 uncertain significance not provided 2020-11-01 criteria provided, single submitter clinical testing

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