NM_001270.4(CHD1):c.3514G>T (p.Val1172Leu) AND Pilarowski-Bjornsson syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003991695.1
Allele description [Variation Report for NM_001270.4(CHD1):c.3514G>T (p.Val1172Leu)]
NM_001270.4(CHD1):c.3514G>T (p.Val1172Leu)
Condition(s)
-
eggc.vipWnM (0)
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Last Updated: Apr 15, 2024