NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs) AND Muscle eye brain disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 24, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000410825.2
Allele description [Variation Report for NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs)]
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024