NM_001286611.2(REPS1):c.1927G>A (p.Asp643Asn) AND Neurodegeneration with brain iron accumulation 7
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 3, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000791049.4
Allele description [Variation Report for NM_001286611.2(REPS1):c.1927G>A (p.Asp643Asn)]
NM_001286611.2(REPS1):c.1927G>A (p.Asp643Asn)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024