ClinVar Miner

Submissions for variant NM_001042424.3(NSD2):c.3412C>G (p.Arg1138Gly)

dbSNP: rs1726909627
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003224971 SCV003921023 uncertain significance Rauch-Steindl syndrome 2023-10-09 criteria provided, single submitter clinical testing Criteria applied: PM1,PM2_SUP,PP3

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