ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.390T>C (p.Tyr130=)

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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 RCV002613153 SCV002957817 likely benign Chromosome 2q32-q33 deletion syndrome 2022-10-27 criteria provided, single submitter clinical testing

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