ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)

gnomAD frequency: 0.00016  dbSNP: rs368154623
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518399 SCV000616188 likely benign not specified 2017-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088427 SCV000765009 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734454 SCV000862598 uncertain significance not provided 2018-07-24 criteria provided, single submitter clinical testing
GeneDx RCV000734454 SCV001793399 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367721 SCV002662940 likely benign Cardiovascular phenotype 2021-05-28 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.
Revvity Omics, Revvity RCV000734454 SCV003825462 likely benign not provided 2023-09-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537865 SCV004709282 likely benign TTN-related disorder 2022-06-29 no assertion criteria provided 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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