NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) AND Bardet-Biedl syndrome 13
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001126448.5
Allele description [Variation Report for NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)]
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
Condition(s)
Assertion and evidence details
Last Updated: Jul 15, 2024