ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.35313G>A (p.Pro11771=)

gnomAD frequency: 0.00013  dbSNP: rs369739111
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726415 SCV000527812 likely benign not provided 2019-01-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726415 SCV000701389 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087408 SCV001006514 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726415 SCV004152469 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000726415 SCV001739564 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000726415 SCV001951640 likely benign not provided no assertion criteria provided clinical testing

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