NM_000530.8(MPZ):c.397C>T (p.Pro133Ser) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 11, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001552197.2
Allele description [Variation Report for NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)]
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Feb 14, 2024