ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1172A>C (p.Gln391Pro)

dbSNP: rs2105822776
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001375953 SCV001572941 likely pathogenic Chromosome 2q32-q33 deletion syndrome 2020-06-04 criteria provided, single submitter clinical testing

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