ClinVar Miner

Submissions for variant NM_016333.4(SRRM2):c.6265C>T (p.Arg2089Ter)

dbSNP: rs2150778921
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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 RCV001807718 SCV002056006 pathogenic Neurodevelopmental disorder 2022-01-11 criteria provided, single submitter clinical testing

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