ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40877-3C>A

gnomAD frequency: 0.00001  dbSNP: rs746615904
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643372 SCV000765059 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140000 SCV003819659 uncertain significance not provided 2019-07-03 criteria provided, single submitter clinical testing

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