ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2742G>T (p.Glu914Asp)

gnomAD frequency: 0.00006  dbSNP: rs145735907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516200 SCV000616043 uncertain significance not specified 2017-05-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139724 SCV003826636 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486854 SCV004239874 likely benign Cardiomyopathy 2023-01-27 criteria provided, single submitter clinical testing

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