ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89844C>T (p.Gly29948=)

dbSNP: rs1700022340
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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 RCV001170310 SCV001332879 uncertain significance Cardiomyopathy 2018-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769836 SCV004582187 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-11 criteria provided, single submitter clinical testing

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