NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe) AND Hirschsprung disease, susceptibility to, 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000297140.5
Allele description [Variation Report for NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe)]
NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe)
Condition(s)
Assertion and evidence details
Last Updated: Mar 10, 2024