ClinVar Miner

Submissions for variant NM_018486.3(HDAC8):c.796G>C (p.Ala266Pro)

dbSNP: rs1569317995
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000678911 SCV000805115 likely pathogenic Cornelia de Lange syndrome 5 2018-05-18 criteria provided, single submitter research

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