ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.4937G>C (p.Cys1646Ser)

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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 RCV003327357 SCV004034156 likely pathogenic Porencephaly 2 2023-07-21 criteria provided, single submitter clinical testing

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