ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1551G>T (p.Leu517=)

gnomAD frequency: 0.00003  dbSNP: rs760937399
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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 RCV001463181 SCV001667117 likely benign Chromosome 2q32-q33 deletion syndrome 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001786487 SCV002028406 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)

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