NM_005548.3(KARS1):c.787T>G (p.Phe263Val) AND Autosomal recessive nonsyndromic hearing loss 89
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001374667.2
Allele description [Variation Report for NM_005548.3(KARS1):c.787T>G (p.Phe263Val)]
NM_005548.3(KARS1):c.787T>G (p.Phe263Val)
Condition(s)
Assertion and evidence details
Last Updated: May 12, 2024