NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs) AND Bernard-Soulier syndrome, type A2, autosomal dominant
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002287470.3
Allele description [Variation Report for NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs)]
NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024