NM_000026.4(ADSL):c.393T>C (p.Leu131=) AND Adenylosuccinate lyase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003498844.1
Allele description [Variation Report for NM_000026.4(ADSL):c.393T>C (p.Leu131=)]
NM_000026.4(ADSL):c.393T>C (p.Leu131=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024