ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) (rs181104321)

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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 RCV000172618 SCV000051286 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000040808 SCV000237783 likely benign not specified 2017-09-25 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 RCV000233803 SCV000286921 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040808 SCV000064499 benign not specified 2015-02-19 criteria provided, single submitter clinical testing p.Arg28781His in exon 288 of TTN: This variant is not expected to have clinical significance because it has been identified in 1.5% (98/6608) of Finnish chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs181104321).

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