ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28733C>T (p.Thr9578Met)

gnomAD frequency: 0.00029  dbSNP: rs184923756
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000714005 SCV000238398 likely benign not provided 2021-04-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23396983)
Labcorp Genetics (formerly Invitae), Labcorp RCV000554086 SCV000642935 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000714005 SCV000844665 uncertain significance not provided 2018-03-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000714005 SCV003826071 uncertain significance not provided 2020-06-05 criteria provided, single submitter clinical testing

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