NM_015270.5(ADCY6):c.1027C>G (p.Leu343Val) AND Lethal congenital contracture syndrome 8
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 14, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001198197.2
Allele description [Variation Report for NM_015270.5(ADCY6):c.1027C>G (p.Leu343Val)]
NM_015270.5(ADCY6):c.1027C>G (p.Leu343Val)
Condition(s)
Assertion and evidence details
Last Updated: Mar 26, 2023