NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) AND Bardet-Biedl syndrome 7
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- May 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001147568.5
Allele description [Variation Report for NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser)]
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser)
Condition(s)
Assertion and evidence details
Last Updated: May 26, 2024