ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1386+18C>T

gnomAD frequency: 0.00029  dbSNP: rs199984701
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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 RCV002107066 SCV002326468 benign Chromosome 2q32-q33 deletion syndrome 2025-01-14 criteria provided, single submitter clinical testing

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