ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1486A>G (p.Lys496Glu)

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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 RCV003315136 SCV004014757 uncertain significance Chromosome 2q32-q33 deletion syndrome 2023-02-09 criteria provided, single submitter clinical testing

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