NM_003922.4(HERC1):c.9439G>A (p.Val3147Ile) AND Macrocephaly, dysmorphic facies, and psychomotor retardation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 21, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001329792.1
Allele description [Variation Report for NM_003922.4(HERC1):c.9439G>A (p.Val3147Ile)]
NM_003922.4(HERC1):c.9439G>A (p.Val3147Ile)
Condition(s)
Assertion and evidence details
Last Updated: May 19, 2024