NM_001042681.2(RERE):c.3940A>C (p.Ile1314Leu) AND Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003130403.3
Allele description [Variation Report for NM_001042681.2(RERE):c.3940A>C (p.Ile1314Leu)]
NM_001042681.2(RERE):c.3940A>C (p.Ile1314Leu)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024