ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.622dup (p.Ser208fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Zarate Arkansas Children's Genetics Clinic, Arkansas Children's Hospital RCV002505919 SCV002817107 pathogenic Chromosome 2q32-q33 deletion syndrome 2022-12-01 criteria provided, single submitter clinical testing

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