ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)

gnomAD frequency: 0.00036  dbSNP: rs140942979
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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,Mass General Brigham Personalized Medicine RCV000152209 SCV000200972 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Gly23902Gly in Exon 275 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 1/2974 African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs140942979).
Eurofins NTD LLC (GA) RCV000152209 SCV000228577 likely benign not specified 2015-02-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000152209 SCV000249280 uncertain significance not specified 2015-05-26 criteria provided, single submitter clinical testing
Invitae RCV000464687 SCV000555421 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-11-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000152209 SCV001519416 likely benign not specified 2021-03-13 criteria provided, single submitter clinical testing
GeneDx RCV001528773 SCV001866071 likely benign not provided 2020-10-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528773 SCV001741102 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528773 SCV001972676 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528773 SCV001977934 likely benign not provided no assertion criteria provided clinical testing

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