NM_001282531.3(ADNP):c.2749C>G (p.Pro917Ala) AND ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 14, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001733674.2
Allele description [Variation Report for NM_001282531.3(ADNP):c.2749C>G (p.Pro917Ala)]
NM_001282531.3(ADNP):c.2749C>G (p.Pro917Ala)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023