NM_024649.5(BBS1):c.441C>T (p.Ile147=) AND Bardet-Biedl syndrome 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001107116.5
Allele description [Variation Report for NM_024649.5(BBS1):c.441C>T (p.Ile147=)]
NM_024649.5(BBS1):c.441C>T (p.Ile147=)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024