NM_003183.6(ADAM17):c.2191C>T (p.Pro731Ser) AND Inflammatory skin and bowel disease, neonatal, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001968094.5
Allele description [Variation Report for NM_003183.6(ADAM17):c.2191C>T (p.Pro731Ser)]
NM_003183.6(ADAM17):c.2191C>T (p.Pro731Ser)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024