ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64885G>A (p.Glu21629Lys)

gnomAD frequency: 0.00004  dbSNP: rs746364765
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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 RCV000769974 SCV000901400 uncertain significance Cardiomyopathy 2017-08-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV003141755 SCV003826534 uncertain significance not provided 2021-11-04 criteria provided, single submitter clinical testing

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