ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25569C>T (p.Ala8523=)

gnomAD frequency: 0.00009  dbSNP: rs375022009
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154971 SCV000169645 benign not specified 2014-04-11 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154971 SCV000204653 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ala7279Ala in exon 85 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/3180 African Ameri can chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington. edu/EVS).
Eurofins Ntd Llc (ga) RCV000724192 SCV000232858 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing
Invitae RCV001089031 SCV000642875 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724192 SCV004155255 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000724192 SCV001979323 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724192 SCV001979994 likely benign not provided no assertion criteria provided clinical testing

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