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GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 8, 2017)
Last evaluated:
Jan 1, 2017
Accession:
VCV000523251.1
Variation ID:
523251
Description:
copy number gain
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GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)

Allele ID
514167
Variant type
copy number gain
Variant length
-
Cytogenetic location
15q11.2-13.1
Genomic location
15: 23810397-29213787 (GRCh37) GRCh37 UCSC
HGVS
-
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jan 1, 2017 RCV000626505.1

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 01, 2017)
criteria provided, single submitter
Method: clinical testing
Autistic disorder of childhood onset
Delayed speech and language development
Generalized joint laxity
Intellectual disability
Long face
Prominent forehead
Short attention span
Strabismus
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000747206.1
Submitted: (Dec 08, 2017)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Sep 24, 2021