GRCh37/hg19 1p36.23(chr1:7266936-7408418)x3 AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 1, 2018
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:: RCV000684544.1

Allele description [Variation Report for GRCh37/hg19 1p36.23(chr1:7266936-7408418)x3]

GRCh37/hg19 1p36.23(chr1:7266936-7408418)x3

Gene:

CAMTA1:calmodulin binding transcription activator 1 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

1p36.23

Genomic location:

Chr1: 7266936 - 7408418 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1p36.23(chr1:7266936-7408418)x3

HGVS:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Rhodococcus sp. (in: high G+C Gram-positive bacteria) strain zw225 16S ribosomal...
Rhodococcus sp. (in: high G+C Gram-positive bacteria) strain zw225 16S ribosomal RNA gene, partial sequence
gi|1389182092|gb|MH338032.1|

Nucleotide
Neoplasms, Connective Tissue
Neoplasms, Connective Tissue
Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective...<br/>

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000812067	Quest Diagnostics Nichols Institute San Juan Capistrano	no assertion criteria provided	Likely pathogenic (Feb 1, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000812067

Quest Diagnostics Nichols Institute San Juan Capistrano

no assertion criteria provided

Likely pathogenic
(Feb 1, 2018)

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, SCV000812067.1

#	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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