ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40222+2TA[10]

dbSNP: rs10580462
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Total submissions: 7
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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 RCV000172796 SCV000055008 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV001573228 SCV001836054 benign not provided 2019-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852100 SCV002240250 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000172796 SCV001744528 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573228 SCV001798776 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000172796 SCV001923120 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000172796 SCV001978224 benign not specified no assertion criteria provided clinical testing

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