ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.862G>A (p.Ala288Thr)

gnomAD frequency: 0.00012  dbSNP: rs142825652
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000646088 SCV000767845 benign Chromosome 2q32-q33 deletion syndrome 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001550718 SCV001771095 likely benign not provided 2020-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002528924 SCV003697136 likely benign Inborn genetic diseases 2022-02-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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