ClinVar Miner

Submissions for variant NM_001370348.2(PHF3):c.3610C>T (p.Arg1204Ter)

dbSNP: rs2149606956
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV002277655 SCV002564465 uncertain significance Neurodevelopmental disorder 2021-12-17 criteria provided, single submitter clinical testing

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