ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.2052G>A (p.Val684=)

gnomAD frequency: 0.00006  dbSNP: rs200632115
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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 RCV000800739 SCV000940469 likely benign Chromosome 2q32-q33 deletion syndrome 2023-12-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540103 SCV004794818 likely benign SATB2-related disorder 2019-03-13 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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