ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1173+5A>G

gnomAD frequency: 0.00010  dbSNP: rs569655648
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689408 SCV000817056 likely benign Chromosome 2q32-q33 deletion syndrome 2023-12-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432733 SCV004148383 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing SATB2: BP4

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