ClinVar Miner

Submissions for variant NM_022454.4(SOX17):c.314C>A (p.Ser105Ter)

dbSNP: rs2129277991
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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 RCV002077365 SCV002320745 pathogenic Pulmonary arterial hypertension 2022-03-01 criteria provided, single submitter clinical testing

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