NM_020975.6(RET):c.2081G>A (p.Arg694Gln) AND Hirschsprung disease, susceptibility to, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001102744.5
Allele description [Variation Report for NM_020975.6(RET):c.2081G>A (p.Arg694Gln)]
NM_020975.6(RET):c.2081G>A (p.Arg694Gln)
Condition(s)
Assertion and evidence details
Last Updated: Apr 20, 2024