NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys) AND FANCA-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003975072.2
Allele description [Variation Report for NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys)]
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys)
Condition(s)
- Name:
- FANCA-related disorder
- Synonyms:
- FANCA-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Oct 8, 2024