ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25489C>T (p.Arg8497Cys)

gnomAD frequency: 0.00001  dbSNP: rs369517119
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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 RCV000539332 SCV000642874 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713999 SCV000844657 uncertain significance not provided 2018-01-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000713999 SCV003825448 uncertain significance not provided 2019-03-07 criteria provided, single submitter clinical testing

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