NM_018026.4(PACS1):c.554G>A (p.Arg185Gln) AND Schuurs-Hoeijmakers syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003652550.1
Allele description [Variation Report for NM_018026.4(PACS1):c.554G>A (p.Arg185Gln)]
NM_018026.4(PACS1):c.554G>A (p.Arg185Gln)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024