NM_017739.4(POMGNT1):c.1344G>T (p.Gly448=) AND Muscle eye brain disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 7, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001829919.1
Allele description [Variation Report for NM_017739.4(POMGNT1):c.1344G>T (p.Gly448=)]
NM_017739.4(POMGNT1):c.1344G>T (p.Gly448=)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024