ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.555dup (p.Gln186fs)

dbSNP: rs2135867122
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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 RCV002277674 SCV002564492 likely pathogenic Neurodevelopmental disorder 2022-03-29 criteria provided, single submitter clinical testing

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