NM_139320.2(CHRFAM7A):c.575T>C (p.Ile192Thr) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004154348.1
Allele description [Variation Report for NM_139320.2(CHRFAM7A):c.575T>C (p.Ile192Thr)]
NM_139320.2(CHRFAM7A):c.575T>C (p.Ile192Thr)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jun 9, 2024