NM_017739.4(POMGNT1):c.1895+1G>T AND POMGNT1-related disorder
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Feb 14, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000778243.12
Allele description [Variation Report for NM_017739.4(POMGNT1):c.1895+1G>T]
NM_017739.4(POMGNT1):c.1895+1G>T
Condition(s)
- Name:
- POMGNT1-related disorder
- Synonyms:
- POMGNT1-Related Disorders; POMGNT1-related condition
- Identifiers:
- MedGen: CN239299
Assertion and evidence details
Last Updated: Sep 8, 2024