ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17228G>A (p.Arg5743Gln)

gnomAD frequency: 0.00003  dbSNP: rs753892271
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088591 SCV000555072 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-23 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726638 SCV000701887 uncertain significance not provided 2018-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000726638 SCV000715702 likely benign not provided 2020-03-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533210 SCV004713398 likely benign TTN-related disorder 2023-02-14 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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