ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)

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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 RCV002795908 SCV003035397 likely pathogenic Intellectual disability-hypotonic facies syndrome, X-linked, 1 2023-01-17 criteria provided, single submitter clinical testing

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