ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.35037G>A (p.Pro11679=) (rs369095270)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040182 SCV000063873 likely benign not specified 2017-02-06 criteria provided, single submitter clinical testing p.Pro10378Pro in exon 150 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and it is not locat ed within the splice consensus sequence. It has been identified in 0.1% (12/1263 6) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://; dbSNP rs369095270).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725450 SCV000337037 uncertain significance not provided 2015-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000040182 SCV000515425 likely benign not specified 2017-06-06 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 RCV001087182 SCV000555669 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769037 SCV000900410 likely benign Cardiomyopathy 2017-08-10 criteria provided, single submitter clinical testing

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