NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) AND Meckel syndrome, type 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:
- RCV000399365.8
Allele description [Variation Report for NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)]
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024