ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile) (rs200343420)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040513 SCV000064204 likely benign not specified 2016-06-10 criteria provided, single submitter clinical testing p.Val19732Ile in exon 266 of TTN: This variant has been identified by our labora tory in 1 African American individual with DCM. However, this variant is not exp ected to have clinical significance because it has been identified in 0.37% (36/ 9778) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org; dbSNP rs200343420).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040513 SCV000340518 likely benign not specified 2016-08-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266781 SCV000422167 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323852 SCV000422168 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380804 SCV000422169 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269962 SCV000422170 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327353 SCV000422171 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384336 SCV000422172 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000040513 SCV000527109 likely benign not specified 2017-05-19 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 RCV000456180 SCV000555340 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617644 SCV000735328 likely benign Cardiovascular phenotype 2018-02-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Subpopulation frequency in support of benign classification

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