ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) (rs140003804)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040050 SCV000063741 benign not specified 2012-04-03 criteria provided, single submitter clinical testing Ala7578Ala in exon 88 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and it has been identified in 0.75% (24/3170) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs140003804)
GeneDx RCV000040050 SCV000169657 benign not specified 2014-05-07 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 RCV000229613 SCV000286536 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000040050 SCV000315445 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040050 SCV000336357 benign not specified 2015-10-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364621 SCV000423998 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272376 SCV000423999 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321184 SCV000424000 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378220 SCV000424001 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286118 SCV000424002 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324738 SCV000424003 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769046 SCV000900419 likely benign Cardiomyopathy 2016-01-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000229613 SCV001146356 benign not provided 2019-07-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000040050 SCV001157517 likely benign not specified 2019-06-02 criteria provided, single submitter clinical testing

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