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GRCh37/hg19 2q21.1(chr2:130166042-130784390)x3

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Interpretation:
Likely benign​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Aug 28, 2019)
Last evaluated:
Apr 25, 2019
Accession:
VCV000814304.1
Variation ID:
814304
Description:
copy number gain
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GRCh37/hg19 2q21.1(chr2:130166042-130784390)x3

Allele ID
802517
Variant type
copy number gain
Variant length
-
Cytogenetic location
2q21.1
Genomic location
2: 130166042-130784390 (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
Likely benign 1 no assertion criteria provided Apr 25, 2019 RCV001005316.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RAB6C - - GRCh38
GRCh37
2 17

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 25, 2019)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001164862.1
Submitted: (Aug 28, 2019)
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 Mar 05, 2020