NM_153717.3(EVC):c.39_40del (p.Leu14fs) AND Ellis-van Creveld syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002306901.2
Allele description [Variation Report for NM_153717.3(EVC):c.39_40del (p.Leu14fs)]
NM_153717.3(EVC):c.39_40del (p.Leu14fs)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2022