NM_178140.4(PDZD2):c.5116A>G (p.Met1706Val) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004074598.1
Allele description [Variation Report for NM_178140.4(PDZD2):c.5116A>G (p.Met1706Val)]
NM_178140.4(PDZD2):c.5116A>G (p.Met1706Val)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jun 9, 2024