ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.62097A>G (p.Pro20699=)

gnomAD frequency: 0.00004  dbSNP: rs774995592
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729637 SCV000857313 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
Invitae RCV001438477 SCV001641351 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-07-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000729637 SCV003826013 uncertain significance not provided 2019-10-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000729637 SCV004152346 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000729637 SCV001744637 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000729637 SCV001968883 likely benign not provided no assertion criteria provided clinical testing

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