NM_138615.3(DHX30):c.2245A>G (p.Ser749Gly) AND Neurodevelopmental disorder with severe motor impairment and absent language
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003146070.3
Allele description [Variation Report for NM_138615.3(DHX30):c.2245A>G (p.Ser749Gly)]
NM_138615.3(DHX30):c.2245A>G (p.Ser749Gly)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024