NM_017739.4(POMGNT1):c.1299G>A (p.Thr433=) AND Muscle eye brain disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 24, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001831413.1
Allele description [Variation Report for NM_017739.4(POMGNT1):c.1299G>A (p.Thr433=)]
NM_017739.4(POMGNT1):c.1299G>A (p.Thr433=)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024