ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) (rs370479059)

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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 RCV000040768 SCV000064459 likely benign not specified 2012-01-31 criteria provided, single submitter clinical testing p.Asn27640Asn in exon 284 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/6690 European American chromosomes and 1/3214 African American chromosomes by the NHLBI Exome sequencing project in a broad population (http://evs.gs.washington.edu/EVS).
Invitae RCV001083455 SCV000286904 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000251412 SCV000318994 likely benign Cardiovascular phenotype 2013-10-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000727784 SCV000515179 likely benign not provided 2021-03-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727784 SCV000855181 uncertain significance not provided 2017-09-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282962 SCV000884801 likely benign none provided 2019-08-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769888 SCV000901314 uncertain significance Cardiomyopathy 2016-06-13 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000040768 SCV001923608 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000727784 SCV001928983 likely benign not provided no assertion criteria provided clinical testing

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