NM_003183.6(ADAM17):c.2188T>C (p.Phe730Leu) AND Inflammatory skin and bowel disease, neonatal, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001929321.4
Allele description [Variation Report for NM_003183.6(ADAM17):c.2188T>C (p.Phe730Leu)]
NM_003183.6(ADAM17):c.2188T>C (p.Phe730Leu)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023