ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100766-9dup

gnomAD frequency: 0.00004  dbSNP: rs202238743
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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 RCV000470188 SCV000555485 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-14 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700376 SCV001918454 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726180 SCV001963071 likely benign not provided no assertion criteria provided clinical testing

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