ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp) (rs397517730)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040709 SCV000064400 uncertain significance not specified 2014-04-10 criteria provided, single submitter clinical testing The Glu25664Asp variant in TTN has previously been identified by our laboratory in 1 Asian individual with HCM, but was absent from large population studies. Co mputational prediction tools and conservation analysis do not provide strong sup port for or against an impact to the protein. Additional information is needed t o fully assess the clinical significance of the Glu25664Asp variant.
Illumina Clinical Services Laboratory,Illumina RCV000332698 SCV000421189 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387249 SCV000421190 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274794 SCV000421191 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318173 SCV000421192 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375092 SCV000421193 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278201 SCV000421194 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000726293 SCV000643786 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726293 SCV000701340 uncertain significance not provided 2017-05-11 criteria provided, single submitter clinical testing

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