NM_001379500.1(COL18A1):c.2780_2781insT (p.Gly928fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003688884.2
Allele description [Variation Report for NM_001379500.1(COL18A1):c.2780_2781insT (p.Gly928fs)]
NM_001379500.1(COL18A1):c.2780_2781insT (p.Gly928fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 29, 2024