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NM_147127.5(EVC2):c.2343C>T (p.Gly781=) AND Ellis-van Creveld syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2017
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:
RCV000668203.2

Allele description [Variation Report for NM_147127.5(EVC2):c.2343C>T (p.Gly781=)]

NM_147127.5(EVC2):c.2343C>T (p.Gly781=)

Gene:
EVC2:EvC ciliary complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.2
Genomic location:
Preferred name:
NM_147127.5(EVC2):c.2343C>T (p.Gly781=)
HGVS:
  • NC_000004.12:g.5622695G>A
  • NG_015821.1:g.91854C>T
  • NM_001166136.2:c.2103C>T
  • NM_147127.5:c.2343C>TMANE SELECT
  • NP_001159608.1:p.Gly701=
  • NP_667338.3:p.Gly781=
  • NC_000004.11:g.5624422G>A
  • NM_147127.4:c.2343C>T
Links:
dbSNP: rs762082443
NCBI 1000 Genomes Browser:
rs762082443
Molecular consequence:
  • NM_001166136.2:c.2103C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_147127.5:c.2343C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Ellis-van Creveld syndrome (EVC)
Synonyms:
MESOECTODERMAL DYSPLASIA; Chondroectodermal dysplasia
Identifiers:
MONDO: MONDO:0009162; MedGen: C0013903; Orphanet: 289; OMIM: 225500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000792767Counsyl
no assertion criteria provided
Uncertain significance
(Jul 14, 2017) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000792767.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 1, 2025