ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84188G>A (p.Arg28063His)

gnomAD frequency: 0.00003  dbSNP: rs570847832
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000381416 SCV000343899 uncertain significance not provided 2016-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000473493 SCV000542496 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000381416 SCV001756182 likely benign not provided 2019-03-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486809 SCV004240140 likely benign Cardiomyopathy 2023-06-19 criteria provided, single submitter clinical testing

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