NM_174878.3(CLRN1):c.349_358del (p.Ala117fs) AND Usher syndrome type 3
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 23, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001002951.1
Allele description [Variation Report for NM_174878.3(CLRN1):c.349_358del (p.Ala117fs)]
NM_174878.3(CLRN1):c.349_358del (p.Ala117fs)
Condition(s)
- Name:
- Usher syndrome type 3
- Synonyms:
- Usher Syndrome, Type III
- Identifiers:
- MONDO: MONDO:0016485; MedGen: C1568248
Assertion and evidence details
Last Updated: May 24, 2022