ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1249del (p.Ala417fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV003149144 SCV003836711 pathogenic Chromosome 2q32-q33 deletion syndrome 2021-03-25 criteria provided, single submitter clinical testing

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