ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72272A>G (p.Asp24091Gly)

gnomAD frequency: 0.00005  dbSNP: rs749484938
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
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170339 SCV001332910 likely benign Cardiomyopathy 2018-06-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003142094 SCV003825593 uncertain significance not provided 2019-09-13 criteria provided, single submitter clinical testing

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