ClinVar Miner

Submissions for variant NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002291467 SCV002583784 likely pathogenic Intellectual disability, autosomal recessive 7 2022-07-26 criteria provided, single submitter clinical testing PVS1, PM2

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