NM_013335.4(GMPPA):c.66T>C (p.Phe22=) AND Alacrima, achalasia, and intellectual disability syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 31, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000921703.5
Allele description [Variation Report for NM_013335.4(GMPPA):c.66T>C (p.Phe22=)]
NM_013335.4(GMPPA):c.66T>C (p.Phe22=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024