ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69287C>T (p.Ser23096Phe)

gnomAD frequency: 0.00001  dbSNP: rs775422985
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Total submissions: 3
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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 RCV000769963 SCV000901389 uncertain significance Cardiomyopathy 2015-12-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141754 SCV003820233 uncertain significance not provided 2022-03-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003141754 SCV005413046 uncertain significance not provided 2024-02-22 criteria provided, single submitter clinical testing BP4

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