ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1740+19C>T

gnomAD frequency: 0.00004  dbSNP: rs757980261
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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 RCV002150675 SCV002453994 likely benign Chromosome 2q32-q33 deletion syndrome 2024-01-12 criteria provided, single submitter clinical testing

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