NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) AND Usher syndrome type 2
- Germline classification:
- Likely 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:
- RCV001002856.2
Allele description [Variation Report for NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)]
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)
Condition(s)
- Name:
- Usher syndrome type 2
- Synonyms:
- Usher Syndrome, Type II
- Identifiers:
- MONDO: MONDO:0016484; MedGen: C0339534
Assertion and evidence details
Last Updated: Jun 17, 2024