NM_000310.4(PPT1):c.3G>A (p.Met1Ile) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002225282.2
Allele description [Variation Report for NM_000310.4(PPT1):c.3G>A (p.Met1Ile)]
NM_000310.4(PPT1):c.3G>A (p.Met1Ile)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 29, 2024