GRCh37/hg19 12p11.21(chr12:32608165-32825558)x1 AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 29, 2018)

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:
RCV000683404.1

Allele description [Variation Report for GRCh37/hg19 12p11.21(chr12:32608165-32825558)x1]

GRCh37/hg19 12p11.21(chr12:32608165-32825558)x1

Gene:
FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
12p11.21
Genomic location:
Chr12: 32608165 - 32825558 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12p11.21(chr12:32608165-32825558)x1
HGVS:
NC_000012.11:g.(?_32608165)_(32825558_?)del

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000810912Quest Diagnostics Nichols Institute San Juan Capistranono assertion criteria providedUncertain significance
(Jan 29, 2018)
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, SCV000810912.1

#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: Dec 25, 2020

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