ClinVar Miner

Submissions for variant NM_016333.4(SRRM2):c.2782_2785del (p.Arg928fs)

dbSNP: rs2150776380
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Total submissions: 2
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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 RCV001807714 SCV002056002 pathogenic Neurodevelopmental disorder 2022-01-11 criteria provided, single submitter clinical testing
OMIM RCV003238154 SCV003936094 pathogenic Intellectual developmental disorder, autosomal dominant 72 2023-06-30 no assertion criteria provided literature only

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