ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3579del (p.Asn1195fs)

dbSNP: rs2147439375
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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 RCV001823045 SCV002072580 pathogenic X-linked intellectual disability, Cantagrel type 2022-01-04 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PVS1, PS2_SUP, PM2_SUP

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