NM_001384474.1(LOXHD1):c.1717G>A (p.Val573Ile) AND Autosomal recessive nonsyndromic hearing loss 77
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000382843.5
Allele description [Variation Report for NM_001384474.1(LOXHD1):c.1717G>A (p.Val573Ile)]
NM_001384474.1(LOXHD1):c.1717G>A (p.Val573Ile)
Condition(s)
Assertion and evidence details
Last Updated: Oct 20, 2024