NM_000289.6(PFKM):c.2087G>A (p.Arg696His) AND not specified
- Germline classification:
- Likely benign (3 submissions)
- Last evaluated:
- Feb 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000251357.13
Allele description [Variation Report for NM_000289.6(PFKM):c.2087G>A (p.Arg696His)]
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Oct 8, 2024