ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102155G>A (p.Arg34052Gln)

gnomAD frequency: 0.00002  dbSNP: rs369245991
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
Revvity Omics, Revvity RCV005632553 SCV006319804 uncertain significance not provided 2023-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643261 SCV000764948 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-04 criteria provided, single submitter clinical testing

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