ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)

gnomAD frequency: 0.00013  dbSNP: rs184307461
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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 RCV000039859 SCV000063550 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing p.Asp3601Asp in exon 47 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 7/ 11536 Latino ch romosomes and 14/66666 European chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org/; rs184307461).
GeneDx RCV000727735 SCV000515091 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780)
Invitae RCV001085828 SCV000555328 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-11-29 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000727735 SCV000855104 uncertain significance not provided 2018-02-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000727735 SCV001146320 benign not provided 2019-06-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000039859 SCV001160533 likely benign not specified 2019-05-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001798129 SCV002042372 likely benign Cardiomyopathy 2020-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727735 SCV002063970 likely benign not provided 2021-12-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000039859 SCV001918398 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000727735 SCV001962820 likely benign not provided no assertion criteria provided clinical testing

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