ClinVar Miner

Submissions for variant NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val)

gnomAD frequency: 0.00001  dbSNP: rs1166797338
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000709976 SCV000840341 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
University of Washington Center for Mendelian Genomics, University of Washington RCV001261756 SCV001439072 uncertain significance Neurodevelopmental disorder no assertion criteria provided research
Undiagnosed Diseases Network, NIH RCV003992374 SCV004812037 likely pathogenic Intellectual developmental disorder, autosomal dominant 64 2023-12-14 no assertion criteria provided clinical testing

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