ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1543-6C>G

gnomAD frequency: 0.00001  dbSNP: rs1328592029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001980722 SCV002272504 benign Chromosome 2q32-q33 deletion syndrome 2024-07-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543674 SCV004800362 likely benign SATB2-related disorder 2024-02-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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