NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) AND Bardet-Biedl syndrome 13
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003475049.2
Allele description [Variation Report for NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)]
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)
Condition(s)
Assertion and evidence details
Last Updated: Jun 17, 2024