ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly) (rs72646849)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184692 SCV000237387 likely benign not specified 2017-12-28 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 RCV000251314 SCV000320405 likely benign Cardiovascular phenotype 2018-05-14 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000184692 SCV000710953 likely benign not specified 2016-08-14 criteria provided, single submitter clinical testing p.Asp18243Gly in exon 253 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.3% (26/9798) of African chromos omes by the Exome Aggregation Consortium (ExAC,; dbSNP rs72646849).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727721 SCV000855076 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing
Invitae RCV001079582 SCV001012298 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing

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