GRCh37/hg19 22q13.2(chr22:43059474-43145703)x1 AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 20, 2017
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:: RCV000848976.2

Allele description [Variation Report for GRCh37/hg19 22q13.2(chr22:43059474-43145703)x1]

GRCh37/hg19 22q13.2(chr22:43059474-43145703)x1

Gene:: A4GALT:alpha 1,4-galactosyltransferase (P blood group) [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 22q13.2
Genomic location:: Chr22: 43059474 - 43145703 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 22q13.2(chr22:43059474-43145703)x1
HGVS:: NC_000022.10:g.(?_43059474)_(43145703_?)del
This HGVS expression did not pass validation

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000991118	Bionano Laboratories	no assertion criteria provided	Pathogenic (Apr 20, 2017)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000991118

Bionano Laboratories

no assertion criteria provided

Pathogenic
(Apr 20, 2017)

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Bionano Laboratories, SCV000991118.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	Buccal	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 11, 2022

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