ClinVar Miner

Submissions for variant NM_018486.3(HDAC8):c.415G>A (p.Gly139Arg)

dbSNP: rs2147590837
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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 RCV001374901 SCV001572188 likely pathogenic Neurodevelopmental disorder 2020-05-06 criteria provided, single submitter clinical testing

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