NM_000071.3(CBS):c.522C>T (p.Ser174=) AND HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003598894.1
Allele description [Variation Report for NM_000071.3(CBS):c.522C>T (p.Ser174=)]
NM_000071.3(CBS):c.522C>T (p.Ser174=)
Condition(s)
- Name:
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Identifiers:
- MedGen: C3150344
Assertion and evidence details
Last Updated: Feb 28, 2024