NM_032581.4(HYCC1):c.100_101del (p.Lys34fs) AND Hypomyelination and Congenital Cataract
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 15, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000785923.2
Allele description [Variation Report for NM_032581.4(HYCC1):c.100_101del (p.Lys34fs)]
NM_032581.4(HYCC1):c.100_101del (p.Lys34fs)
Condition(s)
Assertion and evidence details
Last Updated: Mar 30, 2024