ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala) (rs200017524)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622130 SCV000736507 likely benign Cardiovascular phenotype 2016-01-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification
Athena Diagnostics Inc RCV000714058 SCV000844724 benign not provided 2018-07-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154937 SCV000335002 likely benign not specified 2015-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000154937 SCV000237346 likely benign not specified 2018-01-11 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 RCV000471908 SCV000555270 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154937 SCV000204619 likely benign not specified 2015-10-31 criteria provided, single submitter clinical testing p.Thr16970Ala in exon 247 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.5% (45/9792) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200017524).

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