NM_007241.4(SNF8):c.423-1G>C AND Neurodevelopmental disorder plus optic atrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 10, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003994559.1
Allele description [Variation Report for NM_007241.4(SNF8):c.423-1G>C]
NM_007241.4(SNF8):c.423-1G>C
Condition(s)
-
Conjunctival nevus
Conjunctival nevusMedGen
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024