GRCh37/hg19 12q21.31(chr12:80883788-81175910)x1 AND not provided

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 9, 2015
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:: RCV000737957.2

Allele description

GRCh37/hg19 12q21.31(chr12:80883788-81175910)x1

Genes:: MYF5:myogenic factor 5 [Gene - OMIM - HGNC]
MYF6:myogenic factor 6 [Gene - OMIM - HGNC]
PTPRQ:protein tyrosine phosphatase receptor type Q [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 12q21.31
Genomic location:: Chr12: 80883788 - 81175910 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 12q21.31(chr12:80883788-81175910)x1
HGVS:: NC_000012.11:g.(?_80883788)_(81175910_?)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
SCV000866293	Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center	no assertion criteria provided	Pathogenic (Nov 9, 2015)	paternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000866293

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center

no assertion criteria provided

Pathogenic
(Nov 9, 2015)

paternal

clinical testing

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Summary from all submissions

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

Details of each submission

From Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center, SCV000866293.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing (GTR000295241.2)	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	unknown	not provided	blood	not provided	(GTR000295241.2)	not provided	not provided	not provided	not provided

Last Updated: Mar 4, 2023

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