ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) (rs200840285)

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Total submissions: 5
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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 RCV000172677 SCV000051431 likely benign not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001081269 SCV000286608 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172677 SCV000609002 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517437 SCV000616064 benign not specified 2017-05-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000517437 SCV001159562 likely benign not specified 2019-05-21 criteria provided, single submitter clinical testing

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