ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44222C>T (p.Thr14741Met)

gnomAD frequency: 0.00002  dbSNP: rs778576436
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001700183 SCV003824123 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000471302 SCV000542839 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-16 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700183 SCV002038137 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001700183 SCV001963373 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700183 SCV001920171 uncertain significance not provided no assertion criteria provided clinical testing

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