NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) AND See cases
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003156137.1
Allele description [Variation Report for NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)]
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
Assertion and evidence details
Last Updated: Sep 29, 2024