NM_000538.4(RFXAP):c.118G>T (p.Ala40Ser) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004035077.1
Allele description [Variation Report for NM_000538.4(RFXAP):c.118G>T (p.Ala40Ser)]
NM_000538.4(RFXAP):c.118G>T (p.Ala40Ser)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Sep 1, 2024