ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10182A>G (p.Gln3394=)

gnomAD frequency: 0.00001  dbSNP: rs797046059
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195006 SCV000249231 uncertain significance not specified 2015-05-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726185 SCV000342719 uncertain significance not provided 2016-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517986 SCV002953367 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-05-22 criteria provided, single submitter clinical testing

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