NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu) AND Bernard-Soulier syndrome, type A2, autosomal dominant
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002280905.3
Allele description [Variation Report for NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu)]
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024