ClinVar Miner

Submissions for variant NM_021975.4(RELA):c.1310C>G (p.Ser437Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003994785 SCV004812921 likely pathogenic Mucocutaneous ulceration, chronic 2023-09-23 criteria provided, single submitter clinical testing PVS1, PM2

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