ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105413T>C (p.Met35138Thr)

gnomAD frequency: 0.00005  dbSNP: rs771741670
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005404648 SCV006065024 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001722486 SCV003818364 uncertain significance not provided 2021-06-06 criteria provided, single submitter clinical testing
GeneDx RCV001722486 SCV000730445 likely benign not provided 2019-10-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30847666)
Labcorp Genetics (formerly Invitae), Labcorp RCV000536908 SCV000642572 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-20 criteria provided, single submitter clinical testing

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