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NM_022124.6(CDH23):c.336+16G>A AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 21, 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:
RCV003677050.2

Allele description [Variation Report for NM_022124.6(CDH23):c.336+16G>A]

NM_022124.6(CDH23):c.336+16G>A

Genes:
CDH23-AS1:CDH23 antisense RNA 1 [Gene - HGNC]
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.336+16G>A
HGVS:
  • NC_000010.11:g.71511017G>A
  • NG_008835.1:g.119071G>A
  • NM_001171930.2:c.336+16G>A
  • NM_001171931.2:c.336+16G>A
  • NM_001171932.2:c.336+16G>A
  • NM_022124.6:c.336+16G>AMANE SELECT
  • NM_052836.4:c.336+16G>A
  • NC_000010.10:g.73270774G>A
...more
Molecular consequence:
  • NM_001171930.2:c.336+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171931.2:c.336+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171932.2:c.336+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022124.6:c.336+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_052836.4:c.336+16G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004404602Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Nov 21, 2023)
germlineclinical testing

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

Last Updated: Sep 29, 2024

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