NM_153676.4(USH1C):c.*419_*420insAACA AND Retinitis pigmentosa-deafness syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000347392.5
Allele description [Variation Report for NM_153676.4(USH1C):c.*419_*420insAACA]
NM_153676.4(USH1C):c.*419_*420insAACA
Condition(s)
- Name:
- Retinitis pigmentosa-deafness syndrome
- Synonyms:
- RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8; Retinitis pigmentosa 8, formerly; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010775; MedGen: C5779620; OMIM: 500004
Assertion and evidence details
Last Updated: Dec 2, 2023