ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) (rs139953862)

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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 RCV000152211 SCV000200977 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Asp23717Asp in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (6/6576) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs139953862). Asp23717Asp i n exon 275 of TTN (rs139953862; allele frequency = 0.1%, 6/6576) **
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725001 SCV000333101 uncertain significance not provided 2015-07-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345493 SCV000421633 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379204 SCV000421634 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287130 SCV000421635 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339540 SCV000421636 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402203 SCV000421637 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299956 SCV000421638 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000725001 SCV000555481 benign not provided 2019-02-04 criteria provided, single submitter clinical testing

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