ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu)

gnomAD frequency: 0.00001  dbSNP: rs780366664
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001586859 SCV001819527 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001866199 SCV002131062 benign Chromosome 2q32-q33 deletion syndrome 2022-11-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001866199 SCV003820664 uncertain significance Chromosome 2q32-q33 deletion syndrome 2021-11-18 criteria provided, single submitter clinical testing

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