U.S. flag

An official website of the United States government

NM_006265.3(RAD21):c.1162-20_1162-18del AND Cornelia de Lange syndrome 4

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 6, 2023
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV003647143.2

Allele description [Variation Report for NM_006265.3(RAD21):c.1162-20_1162-18del]

NM_006265.3(RAD21):c.1162-20_1162-18del

Gene:
RAD21:RAD21 cohesin complex component [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q24.11
Genomic location:
Preferred name:
NM_006265.3(RAD21):c.1162-20_1162-18del
HGVS:
  • NC_000008.11:g.116852728_116852730del
  • NG_032862.1:g.27139_27141del
  • NM_006265.3:c.1162-20_1162-18delMANE SELECT
  • LRG_772:g.27139_27141del
  • NC_000008.10:g.117864965_117864967del
  • NC_000008.10:g.117864967_117864969del
...more
Molecular consequence:
  • NM_006265.3:c.1162-20_1162-18del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cornelia de Lange syndrome 4 (CDLS4)
Synonyms:
CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
Identifiers:
MONDO: MONDO:0013864; MedGen: C3553517; Orphanet: 199; OMIM: 614701

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004548674Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Oct 6, 2023)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Last Updated: Sep 29, 2024

External link. Please review our privacy policy.