ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.426G>A (p.Met142Ile)

dbSNP: rs764205432
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221058 SCV001393081 benign Chromosome 2q32-q33 deletion syndrome 2023-08-04 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital of Duesseldorf RCV001221058 SCV004046728 uncertain significance Chromosome 2q32-q33 deletion syndrome criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV003438723 SCV004148385 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing SATB2: PM2, PP3

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