NM_001205254.2(OCLN):c.630_645del (p.Gln211fs) AND Pseudo-TORCH syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003486333.2
Allele description [Variation Report for NM_001205254.2(OCLN):c.630_645del (p.Gln211fs)]
NM_001205254.2(OCLN):c.630_645del (p.Gln211fs)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024