ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1627del (p.Arg543fs)

dbSNP: rs1135401803
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV000496200 SCV000586767 pathogenic Chromosome 2q32-q33 deletion syndrome 2017-01-06 criteria provided, single submitter clinical testing Intellectual disability

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