NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000117300.7
Allele description [Variation Report for NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=)]
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Sep 29, 2024