ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Likely benign
- Review status:
- criteria provided, single submitter
- Submissions:
- 1
- First in ClinVar:
- Aug 7, 2021
- Most recent Submission:
- Aug 7, 2021
- Last evaluated:
- Aug 14, 2019
- Accession:
- VCV001189187.2
- Variation ID:
- 1189187
- Description:
- 1bp deletion
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NM_015443.4(KANSL1):c.-90+512del
- Allele ID
- 1181534
- Variant type
- Deletion
- Variant length
- 1 bp
- Cytogenetic location
- 17q21.31
- Genomic location
- 17: 46192311 (GRCh38) GRCh38 UCSC
- 17: 44269677 (GRCh37) GRCh37 UCSC
- HGVS
- ... more HGVS ... less HGVS
- Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000017.11:46192310:AAAAAAAAAAAAA:AAAAAAAAAAAA
- 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 | criteria provided, single submitter | Aug 14, 2019 | RCV001549475.2 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Likely benign
(Aug 14, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV001769631.1
First in ClinVar: Aug 07, 2021 Last updated: Aug 07, 2021 |
|
Functional evidence
Help| 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
Help| 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 Apr 25, 2022