ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu) (rs200875379)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249728 SCV000318839 likely benign Cardiovascular phenotype 2013-07-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176906 SCV000228676 likely benign not specified 2014-09-18 criteria provided, single submitter clinical testing
GeneDx RCV000176906 SCV000237753 likely benign not specified 2017-08-22 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 RCV000472178 SCV000555666 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000176906 SCV000271105 likely benign not specified 2015-11-27 criteria provided, single submitter clinical testing p.Pro27962Leu in exon 286 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.43% (41/9640) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200875379).

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