NM_018026.4(PACS1):c.2112G>A (p.Leu704=) AND Schuurs-Hoeijmakers syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003651523.1
Allele description [Variation Report for NM_018026.4(PACS1):c.2112G>A (p.Leu704=)]
NM_018026.4(PACS1):c.2112G>A (p.Leu704=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024