ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29762T>C (p.Ile9921Thr)

gnomAD frequency: 0.00001  dbSNP: rs373651676
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704895 SCV000237049 likely benign not provided 2020-06-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000524612 SCV000642950 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768897 SCV000900270 uncertain significance Cardiomyopathy 2017-05-31 criteria provided, single submitter clinical testing

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