ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.2396dup (p.Gly800fs)

dbSNP: rs2032191929
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268900 SCV001448143 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003493836 SCV004242448 pathogenic Smith-Magenis syndrome 2024-01-03 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_MOD,PS2_SUP,PM2_SUP

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