NM_000165.5(GJA1):c.120G>A (p.Ala40=) AND Oculodentodigital dysplasia, autosomal recessive
- Germline classification:
- Likely benign (1 submission)
- 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:
- RCV002132657.5
Allele description [Variation Report for NM_000165.5(GJA1):c.120G>A (p.Ala40=)]
NM_000165.5(GJA1):c.120G>A (p.Ala40=)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024