NM_002109.6(HARS1):c.88C>A (p.Leu30Met) AND Usher syndrome type 3B
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000686860.6
Allele description [Variation Report for NM_002109.6(HARS1):c.88C>A (p.Leu30Met)]
NM_002109.6(HARS1):c.88C>A (p.Leu30Met)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024