ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90819G>T (p.Lys30273Asn)

dbSNP: rs1307577297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643062 SCV000764749 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529458 SCV001742950 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529458 SCV001973381 uncertain significance not provided no assertion criteria provided clinical testing

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