ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.133G>C (p.Val45Leu)

gnomAD frequency: 0.00005  dbSNP: rs142028110
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
GeneDx RCV002226171 SCV002504646 likely benign not provided 2021-03-24 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Revvity Omics, Revvity RCV002226171 SCV003821147 uncertain significance not provided 2019-08-14 criteria provided, single submitter clinical testing

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