ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47712T>C (p.Asp15904=)

gnomAD frequency: 0.00002  dbSNP: rs1397706325
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001529405 SCV000724195 likely benign not provided 2020-08-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000871236 SCV001012851 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529405 SCV001742801 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529405 SCV001926747 likely benign not provided no assertion criteria provided clinical testing

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