ClinVar Miner

Submissions for variant NM_018486.3(HDAC8):c.1111+16C>T

gnomAD frequency: 0.00002  dbSNP: rs1039038766
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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 RCV002121613 SCV002448837 benign Cornelia de Lange syndrome 5 2025-01-27 criteria provided, single submitter clinical testing

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