ClinVar Miner

Submissions for variant NM_003235.5(TG):c.4159+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003223288 SCV003917627 pathogenic not provided 2023-03-01 criteria provided, single submitter clinical testing TG: PVS1, PM2

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