ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52135G>C (p.Glu17379Gln)

gnomAD frequency: 0.00001  dbSNP: rs770795675
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470433 SCV000543071 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-08-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001701008 SCV004152391 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing TTN: PM2
Clinical Genetics, Academic Medical Center RCV001701008 SCV001924212 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701008 SCV001970373 uncertain significance not provided no assertion criteria provided clinical testing

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