NM_001278431.2(C1QTNF5):c.393C>A (p.Asn131Lys) AND Isolated microphthalmia 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001105574.4
Allele description [Variation Report for NM_001278431.2(C1QTNF5):c.393C>A (p.Asn131Lys)]
NM_001278431.2(C1QTNF5):c.393C>A (p.Asn131Lys)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024