NM_153717.3(EVC):c.550G>A (p.Asp184Asn) AND Ellis-van Creveld syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- May 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000334802.18
Allele description [Variation Report for NM_153717.3(EVC):c.550G>A (p.Asp184Asn)]
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024