ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79788C>T (p.Ser26596=)

gnomAD frequency: 0.00002  dbSNP: rs777989882
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001092235 SCV000732080 likely benign not provided 2018-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000867888 SCV001009159 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092235 SCV001248645 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Ambry Genetics RCV002334022 SCV002643823 likely benign Cardiovascular phenotype 2019-12-30 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 RCV004533267 SCV004708284 likely benign TTN-related disorder 2023-09-13 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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