GRCh37/hg19 5q34(chr5:161479977-161590162)x1 AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 18, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000682607.1

Allele description [Variation Report for GRCh37/hg19 5q34(chr5:161479977-161590162)x1]

GRCh37/hg19 5q34(chr5:161479977-161590162)x1

Gene:
GABRG2:gamma-aminobutyric acid type A receptor subunit gamma2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5q34
Genomic location:
Chr5: 161479977 - 161590162 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5q34(chr5:161479977-161590162)x1
HGVS:
NC_000005.9:g.(?_161479977)_(161590162_?)del

Condition(s)

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
SCV000810114Quest Diagnostics Nichols Institute San Juan Capistranono assertion criteria providedUncertain significance
(Oct 18, 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, SCV000810114.1

#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: Mar 7, 2021

Support Center