NM_001122630.2(CDKN1C):c.593C>T (p.Ala198Val) AND Beckwith-Wiedemann syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001315896.7
Allele description [Variation Report for NM_001122630.2(CDKN1C):c.593C>T (p.Ala198Val)]
NM_001122630.2(CDKN1C):c.593C>T (p.Ala198Val)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024