ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr)

dbSNP: rs572384303
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000316374 SCV000335621 likely benign not specified 2015-09-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643246 SCV000764933 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768916 SCV000900289 uncertain significance Cardiomyopathy 2016-10-27 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293049 SCV001434029 likely benign Hypertrophic cardiomyopathy criteria provided, single submitter research
GeneDx RCV001707610 SCV001936033 benign not provided 2020-03-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000316374 SCV002511953 likely benign not specified 2022-04-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347994 SCV002646028 likely benign Cardiovascular phenotype 2018-09-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences RCV004535298 SCV004726630 likely benign TTN-related disorder 2022-01-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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