NM_001042683.3(SHPRH):c.1943C>T (p.Thr648Ile) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004261548.1
Allele description [Variation Report for NM_001042683.3(SHPRH):c.1943C>T (p.Thr648Ile)]
NM_001042683.3(SHPRH):c.1943C>T (p.Thr648Ile)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Oct 13, 2024