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Single allele AND See cases

Clinical significance:Pathogenic (Last evaluated: Apr 16, 2021)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for Single allele]

  • ARL6IP5:ADP ribosylation factor like GTPase 6 interacting protein 5 [Gene - OMIM - HGNC]
  • EOGT:EGF domain specific O-linked N-acetylglucosamine transferase [Gene - OMIM - HGNC]
  • FRMD4B:FERM domain containing 4B [Gene - OMIM - HGNC]
  • FOXP1-IT1:FOXP1 intronic transcript 1 [Gene - HGNC]
  • GPR27:G protein-coupled receptor 27 [Gene - OMIM - HGNC]
  • RYBP:RING1 and YY1 binding protein [Gene - OMIM - HGNC]
  • TAFA4:TAFA chemokine like family member 4 [Gene - OMIM - HGNC]
  • TMF1:TATA element modulatory factor 1 [Gene - OMIM - HGNC]
  • EIF4E3:eukaryotic translation initiation factor 4E family member 3 [Gene - OMIM - HGNC]
  • FOXP1:forkhead box P1 [Gene - OMIM - HGNC]
  • LMOD3:leiomodin 3 [Gene - OMIM - HGNC]
  • MITF:melanocyte inducing transcription factor [Gene - OMIM - HGNC]
  • PROK2:prokineticin 2 [Gene - OMIM - HGNC]
  • UBA3:ubiquitin like modifier activating enzyme 3 [Gene - OMIM - HGNC]
Variant type:
Cytogenetic location:
Genomic location:
Chr3: 68939251 - 72700418 (on Assembly GRCh37)


See cases [See the Variation display for details]

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001571333Daryl Scott Lab, Baylor College of Medicineno assertion criteria providedPathogenic
(Apr 16, 2021)
not-reportedclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Ashkenazi Jewish not-reportedyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Daryl Scott Lab, Baylor College of Medicine, SCV001571333.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Ashkenazi Jewishnot providednot providednot providedclinical testingnot provided
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not-reportedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023