GRCh37/hg19 6p21.1(chr6:44893008-45075893)x1 AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 6, 2019
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:: RCV001258727.1

Allele description [Variation Report for GRCh37/hg19 6p21.1(chr6:44893008-45075893)x1]

GRCh37/hg19 6p21.1(chr6:44893008-45075893)x1

Gene:: SUPT3H:SPT3 homolog, SAGA and STAGA complex component [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 6p21.1
Genomic location:: Chr6: 44893008 - 45075893 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 6p21.1(chr6:44893008-45075893)x1
HGVS:: NC_000006.11:g.(?_44893008)_(45075893_?)del
This HGVS expression did not pass validation

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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Caenorhabditis elegans NR LBD domain-containing protein (F42G4.5), partial mRNA
Caenorhabditis elegans NR LBD domain-containing protein (F42G4.5), partial mRNA
gi|1734323686|ref|NM_064377.3|

Nucleotide
F09B9.4 Uncharacterized protein [Caenorhabditis elegans]
F09B9.4 Uncharacterized protein [Caenorhabditis elegans]
Gene ID:184221

Gene
C07A4.2 SCP domain-containing protein [Caenorhabditis elegans]
C07A4.2 SCP domain-containing protein [Caenorhabditis elegans]
Gene ID:182351

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001435696	Quest Diagnostics Nichols Institute San Juan Capistrano	no assertion criteria provided	Likely benign (Dec 6, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001435696

Quest Diagnostics Nichols Institute San Juan Capistrano

no assertion criteria provided

Likely benign
(Dec 6, 2019)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001435696.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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