ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) (rs201797790)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172673 SCV000055015 likely benign not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001082763 SCV000286618 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-06 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172673 SCV001152947 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000172673 SCV001741178 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000172673 SCV001798023 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701694 SCV001931189 benign not specified no assertion criteria provided clinical testing

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