NM_017777.4(MKS1):c.396T>G (p.Asp132Glu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003228627.1
Allele description [Variation Report for NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)]
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)
Condition(s)
Assertion and evidence details
Last Updated: May 27, 2023