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GRCh37/hg19 4q12(chr4:53688710-56491447) AND Piebaldism

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002280638.1

Allele description [Variation Report for GRCh37/hg19 4q12(chr4:53688710-56491447)]

GRCh37/hg19 4q12(chr4:53688710-56491447)

Genes:
Variant type:
copy number loss
Cytogenetic location:
4q12
Genomic location:
Chr4: 53688710 - 56491447 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 4q12(chr4:53688710-56491447)

Condition(s)

Name:
Piebaldism
Synonyms:
Piebald skin depigmentation
Identifiers:
MONDO: MONDO:0008244; MedGen: C0080024; Orphanet: 2884; OMIM: 172800; Human Phenotype Ontology: HP:0007544

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002568903Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
no assertion criteria provided
Pathogenicunknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002568903.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024