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NC_000019.10:g.13185527_13190803dup AND Malan overgrowth syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 7, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003234739.1

Allele description [Variation Report for NC_000019.10:g.13185527_13190803dup]

NC_000019.10:g.13185527_13190803dup

Gene:
NFIX:nuclear factor I X [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NC_000019.10:g.13185527_13190803dup
HGVS:
  • NC_000019.10:g.13185527_13190803dup
  • NC_000019.9:g.13296341_13301617dup
Observations:
1

Condition(s)

Name:
Malan overgrowth syndrome (MALNS)
Synonyms:
Sotos syndrome 2; MALAN SYNDROME
Identifiers:
MONDO: MONDO:0013885; MedGen: C3553660; Orphanet: 420179; OMIM: 614753

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003932633Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH)
no assertion criteria provided
Uncertain significance
(Sep 7, 2022)
de novoclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), SCV003932633.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providedBloodnot provided1not providednot providednot provided

Last Updated: Jan 26, 2024