NM_018257.3(PCMTD2):c.848G>A (p.Arg283His) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004252733.1
Allele description [Variation Report for NM_018257.3(PCMTD2):c.848G>A (p.Arg283His)]
NM_018257.3(PCMTD2):c.848G>A (p.Arg283His)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Oct 8, 2024