ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79251G>C (p.Glu26417Asp)

gnomAD frequency: 0.00004  dbSNP: rs369019463
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525632 SCV000643720 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768915 SCV000900288 uncertain significance Cardiomyopathy 2016-09-07 criteria provided, single submitter clinical testing
GeneDx RCV001591240 SCV001814620 likely benign not provided 2021-06-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001591240 SCV003819553 uncertain significance not provided 2019-05-30 criteria provided, single submitter clinical testing

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