NM_000287.4(PEX6):c.1415del (p.Pro472fs) AND Heimler syndrome 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003475132.1
Allele description [Variation Report for NM_000287.4(PEX6):c.1415del (p.Pro472fs)]
NM_000287.4(PEX6):c.1415del (p.Pro472fs)
Condition(s)
Assertion and evidence details
Last Updated: Nov 24, 2024