ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92232A>G (p.Glu30744=)

dbSNP: rs1395558232
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768861 SCV000900234 uncertain significance Cardiomyopathy 2015-11-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001468628 SCV001672686 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-23 criteria provided, single submitter clinical testing

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