ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39606A>G (p.Pro13202=)

gnomAD frequency: 0.00010  dbSNP: rs372356060
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467817 SCV000555410 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001721506 SCV000730362 likely benign not provided 2019-05-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001721506 SCV002544159 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Revvity Omics, Revvity RCV001721506 SCV003818535 uncertain significance not provided 2022-06-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970298 SCV004777345 likely benign TTN-related condition 2022-09-26 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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