NM_000281.4(PCBD1):c.252_254delinsGTGCTCACCATGGGTG (p.Leu85fs) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003417476.6
Allele description [Variation Report for NM_000281.4(PCBD1):c.252_254delinsGTGCTCACCATGGGTG (p.Leu85fs)]
NM_000281.4(PCBD1):c.252_254delinsGTGCTCACCATGGGTG (p.Leu85fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Jun 17, 2024