ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.453G>A (p.Thr151=)

gnomAD frequency: 0.00004  dbSNP: rs973674250
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553306 SCV000646951 likely benign Chromosome 2q32-q33 deletion syndrome 2023-11-11 criteria provided, single submitter clinical testing

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