ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40222+2TA[9]

dbSNP: rs10580462
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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 RCV000172344 SCV000055007 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172344 SCV001825986 likely benign not provided 2019-08-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054034 SCV002460984 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 RCV001529251 SCV001742384 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000172344 SCV001800354 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001529251 SCV001922203 benign not specified no assertion criteria provided clinical testing

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