NM_002906.4(RDX):c.-64-6del AND Autosomal recessive nonsyndromic hearing loss 24

Germline classification:: Benign (2 submissions)
Last evaluated:: Nov 7, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001731577.14

Allele description [Variation Report for NM_002906.4(RDX):c.-64-6del]

NM_002906.4(RDX):c.-64-6del

Gene:

RDX:radixin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_002906.4(RDX):c.-64-6del

HGVS:

NC_000011.10:g.110279773del
NG_023044.2:g.21951del
NM_001260492.2:c.-64-6del
NM_001260493.2:c.-64-6del
NM_001260494.2:c.-101-6del
NM_001260495.2:c.-158-6del
NM_001260496.2:c.-64-6del
NM_002906.4:c.-64-6delMANE SELECT
NC_000011.9:g.110150498del
NM_002906.3:c.-64-6delT

Links:

dbSNP: rs61003001

Molecular consequence:

NM_001260492.2:c.-64-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_001260493.2:c.-64-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_001260494.2:c.-101-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_001260495.2:c.-158-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_001260496.2:c.-64-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_002906.4:c.-64-6del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 24
Identifiers:: MONDO: MONDO:0012602; MedGen: C1970239; Orphanet: 90636; OMIM: 611022

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001984253	Dubai Health Genomic Medicine Center, Dubai Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Feb 11, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002033488	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Nov 7, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001984253

Dubai Health Genomic Medicine Center, Dubai Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Feb 11, 2020)

germline

clinical testing

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

SCV002033488

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Nov 7, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Dubai Health Genomic Medicine Center, Dubai Health, SCV001984253.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome-Nilou Lab, SCV002033488.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 12, 2026

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