NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) AND not specified
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Feb 11, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000037828.18
Allele description [Variation Report for NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)]
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Sep 8, 2024