ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) (rs72646840)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040418 SCV000064109 benign not specified 2015-05-06 criteria provided, single submitter clinical testing p.Pro17204Leu in exon 249 of TTN: This variant is not expected to have clinical significance because it has been identified in 1.0% (99/9780) of African chromos omes by the Exome Aggregation Consortium (ExAC,; dbSNP rs72646840).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040418 SCV000114415 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000040418 SCV000237353 likely benign not specified 2017-12-06 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.
Ambry Genetics RCV000241577 SCV000319192 benign Cardiovascular phenotype 2013-09-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000476235 SCV000555374 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000040418 SCV000597649 likely benign not specified 2015-08-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000040418 SCV000616113 benign not specified 2017-05-05 criteria provided, single submitter clinical testing

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