U.S. flag

An official website of the United States government

GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1 AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 2, 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:
RCV000683827.1

Allele description [Variation Report for GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1]

GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1

Genes:
Variant type:
copy number loss
Cytogenetic location:
16q22.1-22.2
Genomic location:
Chr16: 70646969 - 72849701 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1
HGVS:
NC_000016.9:g.(?_70646969)_(72849701_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000811336Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Likely pathogenic
(Oct 2, 2017)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000811336.1

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

Last Updated: Apr 23, 2022