NM_014008.5(CCDC22):c.1610C>T (p.Ala537Val) AND Ritscher-Schinzel syndrome 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 9, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001332994.1
Allele description [Variation Report for NM_014008.5(CCDC22):c.1610C>T (p.Ala537Val)]
NM_014008.5(CCDC22):c.1610C>T (p.Ala537Val)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022