NM_002109.6(HARS1):c.388G>A (p.Asp130Asn) AND Usher syndrome type 3B
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002872081.2
Allele description [Variation Report for NM_002109.6(HARS1):c.388G>A (p.Asp130Asn)]
NM_002109.6(HARS1):c.388G>A (p.Asp130Asn)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024