ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.235_239delinsC (p.Glu79fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV005002082 SCV005627644 pathogenic Chromosome 2q32-q33 deletion syndrome 2024-11-27 criteria provided, single submitter clinical testing

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