ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52112G>A (p.Gly17371Glu)

dbSNP: rs794729455
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000474042 SCV000542639 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-08-03 criteria provided, single submitter clinical testing
GeneDx RCV001704908 SCV000237277 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing

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