ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32021T>C (p.Leu10674Pro)

gnomAD frequency: 0.00002  dbSNP: rs762662455
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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 RCV000469985 SCV000543108 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-08-25 criteria provided, single submitter clinical testing
GeneDx RCV001731685 SCV001982329 likely benign not provided 2021-03-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001731685 SCV003827342 uncertain significance not provided 2023-04-25 criteria provided, single submitter clinical testing

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