NM_003072.5(SMARCA4):c.1766C>T (p.Ala589Val) AND Rhabdoid tumor predisposition syndrome 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000548283.9
Allele description [Variation Report for NM_003072.5(SMARCA4):c.1766C>T (p.Ala589Val)]
NM_003072.5(SMARCA4):c.1766C>T (p.Ala589Val)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024