ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33966G>A (p.Pro11322=)

gnomAD frequency: 0.00003  dbSNP: rs373083865
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078926 SCV000286591 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-09 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731205 SCV000858991 uncertain significance not provided 2018-01-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282075 SCV002572063 likely benign not specified 2022-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000731205 SCV004152479 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003919943 SCV004731095 likely benign TTN-related condition 2019-05-24 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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