ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1403C>T (p.Pro468Leu)

gnomAD frequency: 0.00001  dbSNP: rs746076990
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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 RCV001302519 SCV001491732 benign Chromosome 2q32-q33 deletion syndrome 2024-05-06 criteria provided, single submitter clinical testing

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