ClinVar Miner

Submissions for variant NM_001042424.3(NSD2):c.3835del (p.Glu1279fs)

dbSNP: rs2474781315
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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 RCV003326225 SCV004032320 likely pathogenic Rauch-Steindl syndrome 2023-08-22 criteria provided, single submitter clinical testing Criteria applied: PS2,PVS1_MOD,PM2_SUP

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