ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45759C>T (p.Tyr15253=)

gnomAD frequency: 0.00001  dbSNP: rs760747130
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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 RCV000770028 SCV000901454 likely benign Cardiomyopathy 2017-09-20 criteria provided, single submitter clinical testing
Invitae RCV001501523 SCV001706337 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-01 criteria provided, single submitter clinical testing

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