NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys) AND Bardet-Biedl syndrome 16
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- May 3, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001096096.5
Allele description [Variation Report for NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys)]
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024