ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.12699T>C (p.Ala4233=)

dbSNP: rs185931752
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442060 SCV000515086 likely benign not specified 2016-08-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000730667 SCV000858420 uncertain significance not provided 2017-11-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000730667 SCV005042531 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004530550 SCV004732842 likely benign TTN-related disorder 2020-06-16 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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