ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.108+2T>G (rs1057520417)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436600 SCV000515397 uncertain significance not provided 2021-01-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge Not observed in large population cohorts (Lek et al., 2016) Canonical splice site variant in a gene for which loss-of-function is not a known mechanism of disease

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