ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe)

dbSNP: rs1574568704
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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 RCV001027981 SCV004448124 benign Chromosome 2q32-q33 deletion syndrome 2023-10-13 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001027981 SCV001190730 uncertain significance Chromosome 2q32-q33 deletion syndrome 2020-02-05 no assertion criteria provided clinical testing

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