ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.6617T>C (p.Leu2206Pro)

dbSNP: rs1794550318
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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 RCV001250800 SCV001426283 likely pathogenic Coffin-Siris syndrome 1 2020-06-25 criteria provided, single submitter clinical testing

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