NM_173495.3(PTCHD1):c.1987G>C (p.Asp663His) AND PTCHD1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003420608.4
Allele description [Variation Report for NM_173495.3(PTCHD1):c.1987G>C (p.Asp663His)]
NM_173495.3(PTCHD1):c.1987G>C (p.Asp663His)
Condition(s)
- Name:
- PTCHD1-related disorder
- Synonyms:
- PTCHD1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024