NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) AND Neural tube defects, folate-sensitive
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003468813.2
Allele description [Variation Report for NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)]
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024