NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln) AND not provided
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000324012.8
Allele description [Variation Report for NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln)]
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Mar 10, 2024