ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46040T>G (p.Val15347Gly)

gnomAD frequency: 0.00024  dbSNP: rs375367475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001586366 SCV001812778 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150448 SCV003838615 likely benign Cardiomyopathy 2021-09-21 criteria provided, single submitter clinical testing

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