ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32555-6T>C

gnomAD frequency: 0.00129  dbSNP: rs375742678
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040140 SCV000063831 likely benign not specified 2012-04-18 criteria provided, single submitter clinical testing 28823-6T>C in intron 127 of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (12/2952) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS). 28823-6T>C in intron 127 of TTN (allele frequenc y = 0.4%, 12/2952) **
Eurofins Ntd Llc (ga) RCV000040140 SCV000333099 likely benign not specified 2015-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000040140 SCV000515113 likely benign not specified 2017-10-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000463138 SCV000555435 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000040140 SCV001476337 benign not specified 2020-02-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839581 SCV002101783 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839582 SCV002101784 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839583 SCV002101785 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839580 SCV002101787 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483013 SCV002804288 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-09-03 criteria provided, single submitter clinical testing

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