NM_147127.5(EVC2):c.307T>C (p.Leu103=) AND Ellis-van Creveld syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000306502.13
Allele description [Variation Report for NM_147127.5(EVC2):c.307T>C (p.Leu103=)]
NM_147127.5(EVC2):c.307T>C (p.Leu103=)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024