ClinVar Miner

Submissions for variant NM_016333.4(SRRM2):c.3346C>T (p.Gln1116Ter)

dbSNP: rs2150776793
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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 RCV001780025 SCV002016268 pathogenic Neurodevelopmental disorder 2021-06-24 criteria provided, single submitter clinical testing
OMIM RCV003238148 SCV003936088 pathogenic Intellectual developmental disorder, autosomal dominant 72 2023-06-30 no assertion criteria provided literature only

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