NM_005055.5(RAPSN):c.1207del (p.Arg403fs) AND Fetal akinesia deformation sequence 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003471788.2
Allele description [Variation Report for NM_005055.5(RAPSN):c.1207del (p.Arg403fs)]
NM_005055.5(RAPSN):c.1207del (p.Arg403fs)
Condition(s)
Assertion and evidence details
Last Updated: Jun 17, 2024