ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48891G>A (p.Met16297Ile)

gnomAD frequency: 0.00001  dbSNP: rs754110019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000475015 SCV000542651 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798823 SCV002042513 uncertain significance Cardiomyopathy 2021-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139618 SCV003821169 uncertain significance not provided 2019-09-18 criteria provided, single submitter clinical testing

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