NM_182894.3(VSX2):c.699C>T (p.Pro233=) AND Isolated microphthalmia 2
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000876079.15
Allele description [Variation Report for NM_182894.3(VSX2):c.699C>T (p.Pro233=)]
NM_182894.3(VSX2):c.699C>T (p.Pro233=)
Condition(s)
-
Osmia NADH dehydrogenase subunit 5 (ND5) gene, partial cds; mitochondrial.
Osmia NADH dehydrogenase subunit 5 (ND5) gene, partial cds; mitochondrial.PopSet: 2294229731PopSet
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024