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NM_015295.2(SMCHD1):c.4008-7_4008-3delTTGTT

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 19, 2018)
Last evaluated:
Oct 22, 2015
Accession:
VCV000283673.1
Variation ID:
283673
Description:
5bp deletion
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NM_015295.2(SMCHD1):c.4008-7_4008-3delTTGTT

Allele ID
267910
Variant type
Deletion
Variant length
5 bp
Cytogenetic location
18p11.32
Genomic location
18: 2750343-2750347 (GRCh38) GRCh38 UCSC
18: 2750341-2750345 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.2750343_2750347del
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA8871365
dbSNP: rs760383946
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 22, 2015 RCV000261539.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMCHD1 - - GRCh38
GRCh37
340 444

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 22, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000335922.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...

Citations for this variant

Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SMCHD1 - - - -

Record last updated Dec 17, 2019