NM_031885.5(BBS2):c.367A>G (p.Ile123Val) AND not specified
- Germline classification:
- Benign (2 submissions)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000241605.8
Allele description [Variation Report for NM_031885.5(BBS2):c.367A>G (p.Ile123Val)]
NM_031885.5(BBS2):c.367A>G (p.Ile123Val)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Sep 29, 2024