ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2775+19G>T

dbSNP: rs199707799
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001528562 SCV000718611 likely benign not provided 2018-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063173 SCV002393674 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000607123 SCV004038671 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001528562 SCV004563323 likely benign not provided 2023-11-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528562 SCV001740477 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000607123 SCV001917440 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000607123 SCV001967836 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528562 SCV002034298 likely benign not provided no assertion criteria provided clinical testing

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