NM_153676.4(USH1C):c.1146dup (p.Gln383fs) AND Autosomal recessive nonsyndromic hearing loss 18A
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003459623.1
Allele description [Variation Report for NM_153676.4(USH1C):c.1146dup (p.Gln383fs)]
NM_153676.4(USH1C):c.1146dup (p.Gln383fs)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024