ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.3502dup (p.Ile1168fs)

dbSNP: rs1766898088
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV001293633 SCV001482026 likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome criteria provided, single submitter clinical testing ACMG classification: likely pathogenic PVS1, PM2

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