ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57273C>T (p.Asp19091=)

gnomAD frequency: 0.00001  dbSNP: rs587780489
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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 RCV000118767 SCV000153306 benign not specified 2013-12-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000724559 SCV000228178 uncertain significance not provided 2015-01-22 criteria provided, single submitter clinical testing
Invitae RCV001430700 SCV001633444 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-07-14 criteria provided, single submitter clinical testing

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