ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.1874C>T (p.Pro625Leu)

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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 RCV002776548 SCV003035403 likely pathogenic Blepharophimosis-impaired intellectual development syndrome 2022-05-02 criteria provided, single submitter clinical testing

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