NM_005120.3(MED12):c.5310C>A (p.Asp1770Glu) AND Blepharophimosis - intellectual disability syndrome, MKB type
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003142526.1
Allele description [Variation Report for NM_005120.3(MED12):c.5310C>A (p.Asp1770Glu)]
NM_005120.3(MED12):c.5310C>A (p.Asp1770Glu)
Condition(s)
Assertion and evidence details
Last Updated: Mar 11, 2023