NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs) AND Muscle eye brain disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 17, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000412188.2
Allele description [Variation Report for NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs)]
NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024