ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)

gnomAD frequency: 0.00014  dbSNP: rs553548392
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000713984 SCV000238292 likely benign not provided 2021-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713984 SCV000844639 benign not provided 2018-06-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000713984 SCV000855122 uncertain significance not provided 2017-11-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000185387 SCV000967127 benign not specified 2018-10-24 criteria provided, single submitter clinical testing The p.Lys5822Arg variant in TTN is classified as benign because it has been iden tified in 0.18% (66/35238) of Latino chromosomes by gnomAD (http://gnomad.broadi nstitute.org). ACMG/AMP Criteria applied: BA1.
Labcorp Genetics (formerly Invitae), Labcorp RCV001087209 SCV001002089 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000713984 SCV003827388 likely benign not provided 2023-09-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537571 SCV004735107 likely benign TTN-related disorder 2021-07-08 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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