NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) AND Retinitis pigmentosa
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 23, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001002878.1
Allele description [Variation Report for NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)]
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024