ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39057G>A (p.Pro13019=) (rs371945519)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152363 SCV000201285 likely benign not specified 2014-12-03 criteria provided, single submitter clinical testing p.Pro10585Pro in exon 156 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 3/3614 African Ame rican chromosomes by the NHLBI Exome sequencing project (http://evs.gs.washingto n.edu/EVS/; dbSNP rs371945519).
Invitae RCV000227381 SCV000286630 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-09-24 criteria provided, single submitter clinical testing
GeneDx RCV000152363 SCV000518231 benign not specified 2015-10-09 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.

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