GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1 AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 9, 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:
RCV000850010.1

Allele description [Variation Report for GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1]

GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1

Gene:
GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
14q31.3
Genomic location:
Chr14: 88399622 - 88422569 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1
HGVS:
NC_000014.8:g.(?_88399622)_(88422569_?)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
SCV000992152Lineagen, Incno assertion criteria providedUncertain significance
(Aug 9, 2017)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Lineagen, Inc, SCV000992152.1

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

Last Updated: Dec 25, 2020

Support Center