ClinVar Miner

Submissions for variant NM_003470.3(USP7):c.3052C>T (p.Arg1018Ter)

dbSNP: rs1272068741
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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 RCV001780066 SCV002016321 pathogenic Neurodevelopmental disorder 2021-10-07 criteria provided, single submitter clinical testing

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