NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) AND Ellis-van Creveld syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jan 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000003551.8
Allele description [Variation Report for NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter)]
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024