NM_001270.4(CHD1):c.4646A>C (p.His1549Pro) AND Pilarowski-Bjornsson syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003144863.3
Allele description [Variation Report for NM_001270.4(CHD1):c.4646A>C (p.His1549Pro)]
NM_001270.4(CHD1):c.4646A>C (p.His1549Pro)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024